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When refering to this database please cite White SJ, den Dunnen JT (2006). Copy number variation in the genome; the human DMD gene as an example. Cytogenet.Genome Res. 115: 240-246.
NOTE: the link to the DMD reading frame checker moved to below under "Graphical displays and utilities".
An overview of del/dup frequencies per country, not all included in this database, can be found here.
NOTE: for small sequence changes (point mutations) go to the DMD gene variant database.
LOVD - Variant listings for DMD_d

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_0-Dp427m_4i c.(-127947_-244)_264+?del - r.0? p.0? DMD_e1e4 Dp427c present germline (inherited) - DNA MAPH, PCRm - -
_0-Dp427m_1i c.-13496_31+1783del - r.0? p.0? DMD_e1 15.3 kb deletion germline (inherited) Muntoni, Bastianutto 2002, GenBank DNA PCR, SEQ - -
_0-Dp427m_1i c.-1443_31+4726delinsTTTTTAAAATTA - r.0? p.0? DMD_e1 6.2 Kb deletion germline (inherited) Bastianutto 2002, GenBank DNA PCR, SEQ - -
_0-Dp427c_79_ c.(?_-128297)_(*2691_?)del
  (Reported 9 times)		 - r.0? p.0? DMD_e1e79 whole gene deletion incl. Dp427c germline (inherited) - DNA MAPH, Southern - -
_0-Dp427c_ c.(?_-128297)_(-127947_-244)del - r.? p.? DMD_e1c deletion Dp427c (brain) promoter only unknown - DNA PCR - -
_0-Dp427c_1i c.(?_-128297)_31+83220+?del
  (Reported 4 times)		 - r.0? p.0? DMD_e0e1 deletion incl. Dp427c, Dp427p germline (inherited) - DNA MAPH, PCRm - -
_0-Dp427c_1i c.(?_-128297)_31+?del
  (Reported 5 times)		 - r.0? p.0? DMD_e0e1 deletion includes Dp427c germline (inherited) - DNA PCRm - -
_0-Dp427m_79_ c.(?_-244)_(*2691_?)del
  (Reported 12 times)		 - r.0? p.0? DMD_e1e79 whole gene deletion germline (inherited) - DNA PCRm - -
_0-Dp427m_19 c.(?_-244)_(2380_4071)del - r.0? p.0? DMD_MP1MP19 - germline (inherited) - DNA PCRm - -
_0-Dp427m_1i c.(?_-244)_(31+83135_?)del - r.0? p.0? DMD_e1 inherited maternal grand mother germline (inherited) Carsana DNA qfPCR - -
0_1i c.(?_-244)_(31+83220_94-1)del - r.0? p.0 DMD_99012 deletion muscle and Purkinje promoter unknown Carsana 2010 DNA PCRq, PCR - -
_0-Dp427m_? c.(?_-244)_(6912_7660)del - r.0? p.0? DMD_00000 deletion all exons cDNA97-1 into cDNA44-1 germline (inherited) Baumbach DNA Southern - -
_0-Dp427m_9 c.(?_-244)_(960_1231)del - r.0? p.0? DMD_MP1MP9 - germline (inherited) Taylor 2007 DNA PCRm - -
_0-Dp427m_73i c.(?_-244)_10394+?del - r.0? p.0? DMD_e1e73 - germline (inherited) Hwa 2007 DNA MLPA - -
_0-Dp427m_11i c.(?_-244)_1331+?dup - r.? p.? DMD_e1e11b - germline (inherited) Zeng 2007 DNA aMLPA - -
_0-Dp427m_12i c.(?_-244)_1482+?del - r.0? p.0? DMD_e1e12 - germline (inherited) Jorge ESHG2006 P1191 DNA MLPA, PCRm, Southern - -
_0-Dp427m_13i c.(?_-244)_1602+?del - r.0? p.0? DMD_e1e13 - germline (inherited) Hodgson DNA Southern - -
_0-Dp427m_3i c.(?_-244)_186+?del - r.0? p.0? DMD_e1e3 - germline (inherited) Yuge DNA PCRm, Southern - -
_0-Dp427m_17i c.(?_-244)_2168+?del - r.0? p.0? DMD_e1e17 - germline (inherited) - DNA Southern - -
_0-Dp427m_18i c.(?_-244)_2292+?del
  (Reported 3 times)		 - r.0? p.0? DMD_e1e18 - germline (inherited) - DNA Southern - -
_0-Dp427m_19i c.(?_-244)_2380+?del - r.0? p.0? DMD_e1e19 - germline (inherited) Giliberto DNA PCRm - -
_0-Dp427m_20i c.(?_-244)_2622+?dup - r.? p.? DMD_e1e20b - germline (inherited) Prior 2005 DNA PCR, Southern - -
_0-Dp427m_4i c.(?_-244)_264+?del - r.0? p.0? DMD_e1e4 - germline (inherited) Yuge DNA PCRm, Southern - -
_0-Dp427m_1i c.(?_-244)_31+?del
  (Reported 14 times)		 - r.0? p.0? DMD_e1 - germline (inherited) - DNA PCRm - -
_0-Dp427m_1i c.(?_-244)_31+?dup
  (Reported 5 times)		 - r.? p.? DMD_e1b - germline (inherited) - DNA MLPA - -
_0-Dp427m_25i c.(?_-244)_3432+?del - r.0? p.0? DMD_e1e25 - germline (inherited) - DNA Southern - -
_0-Dp427m_5i c.(?_-244)_357+?del - r.0? p.0? DMD_e1e5 - germline (inherited) Janssen 2005 DNA MLPA - -
_0-Dp427m_30i c.(?_-244)_4233+?del - r.0? p.0? DMD_e1e30 - germline (inherited) Vancso ESHG2008 P01.221 DNA MLPA - -
_0-Dp427m_41i c.(?_-244)_5922+?del - r.0? p.0? DMD_e1e41 - germline (inherited) - DNA MLPA - -
_0-Dp427m_43i c.(?_-244)_6290+?del
  (Reported 3 times)		 - r.0? p.0? DMD_e1e43 - germline (inherited) Prior 2005 DNA PCR, Southern - -
_0-Dp427m_44i c.(?_-244)_6438+?del
  (Reported 4 times)		 - r.0? p.0? DMD_e1e44 - germline (inherited) Taylor 2007 DNA PCRm - -
_0-Dp427m_7i c.(?_-244)_649+?del
  (Reported 8 times)		 - r.0? p.0? DMD_e1e7 - germline (inherited) Gilgenkrantz DNA Southern - -
_0-Dp427m_47i c.(?_-244)_6912+?del - r.0? p.0? DMD_e1e47 - germline (inherited) - DNA PCRm - -
_0-Dp427m_48i c.(?_-244)_7098+?del - r.0? p.0? DMD_e1e48 - germline (inherited) - DNA Southern - -
_0-Dp427m_48i c.(?_-244)_7200+?del - r.0? p.0? DMD_e1e48 del incl. promotor germline (inherited) Tuffery-Giraud 2009, UMD-3015 DNA MLPA - -
_0-Dp427m_51i c.(?_-244)_7542+?del - r.0? p.0? DMD_e1e51 - germline (inherited) Tuffery-Giraud 2009, UMD-1484 DNA MLPA - -
_0-Dp427m_55i c.(?_-244)_8217+?del
  (Reported 2 times)		 - r.0? p.0? DMD_e1e55 - germline (inherited) - DNA MLPA, PCR - -
_0-Dp427m_8i c.(?_-244)_831+?del - r.0? p.0? DMD_e1e8 - germline (inherited) Tuffery-Giraud 2009, UMD-2415 DNA MLPA - -
_0-Dp427m_60i c.(?_-244)_9084+?del - r.0? p.0? DMD_e1e60 - germline (inherited) Covone DNA Southern, PCR - -
_0-Dp427m_2i c.(?_-244)_93+?del
  (Reported 6 times)		 - r.0? p.0? DMD_e1e2 - germline (inherited) Covone DNA Southern, PCR - -
_0-Dp427m_9i c.(?_-244)_960+?del - r.0? p.0? DMD_e1e9 del incl. DXS1242; de novo, in patient de novo Tuffery-Giraud 2009, UMD-1558 DNA MLPA - -
_0-Dp427m_44 c.[(?_-244)_(31_93)del; 6291-?_6438+?del] - r.0? p.0? DMD_99001 de novo, in patient; non-contiguous deletion de novo Alcantara, ASHG2004, P786 DNA PCRm - -
_0-Dp427m_52 c.[(?_-244)_831+?dup; 6439-?_7660+?del] - r.0? p.(0?) DMD_00000 non-contiguous duplication exons 1-8, deletion 45-52 germline (inherited) Zeng 2007 DNA aMLPA - -
1_18i AL121578.1:g.?_2292+?del - r.0? p.0? DMD_e1e18 breakpoint within 5 kb centromeric of BB (cell line GM07691B) germline (inherited) Brown DNA PCR, Southern - -
1 c.(?_-244)_(31_93)del
  (Reported 5 times)		 - r.0? p.0? DMD_MP1 - germline (inherited) Taylor 2007 DNA PCRm - -
1_79 c.0
  (Reported 6941 times)		 - r.0 p.0 DMD_00000 no paternal X-chromosome germline (inherited) - DNA ? - -
1_79 c.=
  (Reported 253 times)		 - r.= p.= DMD_00000 normal 2nd X-chromosome germline (inherited) - DNA ? - -
1_79 c.?
  (Reported 245 times)		 - r.(?) p.(?) DMD_00000 unknown variant 2nd X-chromosome germline (inherited) - DNA SEQ - -
1i_? t(X;5)(p21.1;q35.3)c.31+?_32-? - r.(?) p.(?) DMD_00000 translocation germline (inherited) Meitinger DNA PFGE, Southern - -
1i_2i c.31+50946_93+30459dup - r.(32_93dup) p.(fs*) DMD_e2b - germline (inherited) White 2006, Flanigan 2009 DNA MLPA, PCR, SEQ - -
1i_2i c.32-722946_93+8814dupinsTTATACAAA - r.(32_93dup) p.(fs*) DMD_e2b - germline (inherited) White 2006, Flanigan 2009 DNA MLPA, PCR, SEQ - -
1i_2i c.32-47327_93+10092dupins275 - r.(32_93dup) p.(fs*) DMD_e2b - germline (inherited) White 2006, Flanigan 2009 DNA MLPA, PCR, SEQ - -
1i_2i c.32-24811_93+20933dupinsATCCTTTTGAAGG c.32-24811_93+20933dupinsATCCTTTTGAAGG r.(32_93dup) p.(fs*) DMD_01885 - germline (inherited) Dworniczak ESHG2008 P01.201 DNA MLPA, SEQ, qPCR - -
1i_2i c.32-19186_93+31195dupinsAATA - r.(32_93dup) p.(fs*) DMD_e2b - germline (inherited) White 2006, Flanigan 2009 DNA MLPA, PCR, SEQ - -
1i_2i c.32-2718_93+9729dup c.32-2718_93+9729dup r.(32_93dup) p.(fs*) DMD_01887 - germline (inherited) Dworniczak ESHG2008 P01.203 DNA MLPA, SEQ, qPCR - -
1i_79_ c.32-?_(*2691_?)del - r.(32_*2691del) p.0? DMD_e2e79 - germline (inherited) - DNA MLPA, Southern - -
1i_2i c.32-?_93+?(4_5) - r.(32_qua) p.(fs*) DMD_00000 4 to 5 copies ex02; de novo, in patient de novo Gabriel ESHG2008 P08.25 DNA MLPA, qPCR - -
1i_2i c.32-?_93+?dup
  (Reported 109 times)		 - r.(32_93dup) p.(fs*) DMD_e2b - germline (inherited) Flanigan 2009 DNA PCR, MLPA - -
1i_3i c.32-?_186+?del - r.(32_196del) p.(fs*?) DMD_e2e3 - germline (inherited) Yuge DNA PCRm, Southern - -
1i_4i c.32-?_264+?dup
  (Reported 11 times)		 - r.(32_264dup) p.(fs*) DMD_e2e4b - germline (inherited) - RNA+DNA MLPA, SEQ - -
1i_5i c.32-?_357+?del - r.(32_357del) p.(fs*?) DMD_e2e5 - germline (inherited) - DNA MLPA, Southern - -
1i_5i c.32-?_357+?dup
  (Reported 2 times)		 - r.(32_357dup) p.(fs*) DMD_e2e5b - germline (inherited) Janssen 2005 DNA MLPA - -
1i_6i c.32-?_530+?del
  (Reported 5 times)		 - r.(32_530del) p.(fs*?) DMD_e2e6 - germline (inherited) - DNA MLPA, Southern - -
1i_6i c.32-?_530+?dup
  (Reported 2 times)		 - r.(32_530dup) p.(fs*?) DMD_e2e6b - germline (inherited) Yuge DNA PCRm, Southern - -
1i_7i c.32-?_649+?del
  (Reported 8 times)		 - r.(32_649del) p.(del) DMD_e2e7 - germline (inherited) - DNA PCRm, Southern - -
1i_7i c.32-?_649+?dup
  (Reported 35 times)		 - r.(32_649dup) p.(dup?) DMD_e2e7b - germline (inherited) - DNA MLPA, Southern - -
1i_55i c.[32-?_649+?dup; 7201-?_8217+?dup] - r.(?) p.(?) DMD_00000 non-contiguous duplication exons 2-7 and 50-55 germline (inherited) Fenollar-Cortes 2008 DNA MLPA - -
1i_55i c.[32-?_649+?dup;7201-?_8217+?dup] - r.(?) p.(?) DMD_00000 non-contiguous duplication exons 2-7 and 50-55 germline (inherited) Fenollar-Cortes 2008 DNA MLPA - -
1i_8i c.32-?_831+?dup - r.(32_831dup) p.(fs*) DMD_e2e8b - germline (inherited) Jorge ESHG2006 P1191 DNA MLPA - -
1i_9i c.32-?_960+?dup
  (Reported 2 times)		 - r.(32_960dup) p.(fs*) DMD_e2e9b - germline (inherited) White 2002 DNA MLPA, MAPH, Southern - -
1i_10i c.32-?_1149+?dup - r.(32_1149dup) p.(fs*?) DMD_e2e10b - germline (inherited) Todorova 2008, Todorova, ESHG 2007 P0800 DNA MLPA - -
1i_11i c.32-?_1331+?del - r.(32_1331del) p.(fs*) DMD_e2e11 - germline (inherited) - DNA Southern - -
1i_11i c.32-?_1331+?dup
  (Reported 7 times)		 - r.(32_1331dup) p.(fs*) DMD_e2e11b - germline (inherited) - DNA MLPA, qfPCR - -
1i_12i c.32-?_1482+?del - r.(32_1482del) p.(fs*) DMD_e2e12 - germline (inherited) Basak 2006 DNA PCR - -
1i_12i c.32-?_1482+?dup
  (Reported 4 times)		 - r.(32_1482dup) p.(fs*) DMD_e2e12b - germline (inherited) - DNA MLPA - -
1i_13i c.32-?_1602+?del
  (Reported 3 times)		 - r.(32_1602del) p.(fs*) DMD_e2e13 - germline (inherited) Prior 2005 DNA PCR, Southern - -
1i_13i c.32-?_1602+?dup
  (Reported 3 times)		 - r.(32_1602dup) p.(fs*) DMD_e2e13b - germline (inherited) Taylor 2007 DNA MLPA - -
1i_15i c.32-?_1812+?dup - r.(32_1812dup) p.(fs*) DMD_e2e15b - germline (inherited) Taylor 2007 DNA MLPA - -
1i_16i c.32-?_1992+?del - r.(32_1992del) p.(fs*?) DMD_e2e16 de novo, in mother (grandmaternal allele) germline (inherited) Bakker DNA Southern - -
1i_16i c.32-?_1992+?dup - r.(32_1992dup) p.(fs*) DMD_e2e16b - germline (inherited) Tuffery-Giraud 2009, UMD-367 DNA MLPA - -
1i_17i c.32-?_2168+?del - r.(32_2168dup) p.(fs*) DMD_e2e17b de novo, in patient de novo Tuffery-Giraud 2009, UMD-2556 DNA MLPA - -
1i_17i c.32-?_2168+?dup - r.(32_2168dup) p.(fs*) DMD_e2e17b - germline (inherited) Jorge ESHG2006 P1191 DNA MLPA - -
1i_18i c.32-?_2292+?del
  (Reported 2 times)		 - r.(32_2292del) p.(fs*) DMD_e2e18 - germline (inherited) - DNA Southern - -
1i_18i c.32-?_2292+?dup - r.(32_2292dup) p.(fs*) DMD_e2e18b - germline (inherited) Tuffery-Giraud 2009, UMD-368 DNA MLPA - -
1i_19i c.32-?_2380+?del - r.(32_2380del) p.(del) DMD_e2e19 - germline (inherited) Yuge DNA PCRm, Southern - -
1i_19i c.32-?_2380+?dup - r.(32_2380dup) p.(dup) DMD_e2e19b - germline (inherited) Jorge ESHG2006 P1191 DNA MLPA - -
1i_20i c.32-?_2622+?del
  (Reported 2 times)		 - r.(32_2622del) p.(fs*) DMD_e2e20 - germline (inherited) Prior 2005 DNA PCR, Southern - -
1i_20i c.32-?_2622+?dup - r.(32_2622dup) p.(fs*) DMD_e2e20b - germline (inherited) Khordadpoor-Deilamani 2011 DNA MLPA, PCR - -
1i_25i c.32-?_3432+?del - r.(32_3432del) p.(fs*) DMD_e2e25 - germline (inherited) - DNA Southern - -
1i_26i c.32-?_3603+?dup - r.(32_3603dup) p.(fs*) DMD_e2e26b - germline (inherited) Hwa 2007 DNA MLPA - -
1i_27i c.32-?_3786+?del - r.(32_3786del) p.(fs*) DMD_e2e27 - germline (inherited) Prior 2005 DNA PCR, Southern - -
1i_29i c.32-?_4071+?del
  (Reported 2 times)		 - r.(32_4071del) p.(fs*) DMD_e2e29 - germline (inherited) Jorge ESHG2006 P1191 DNA MLPA - -
1i_29i c.32-?_4071+?dup - r.(32_4071dup) p.(fs*) DMD_e2e29b del exons 3-29 in Fig.2 germline (inherited) Hwa 2007 DNA MLPA - -
1i_30i c.32-?_4233+?del - r.(32__4233del) p.(fs*) DMD_e2e30 - germline (inherited) - DNA MLPA, MAPH - -
1i_30i c.32-?_4233+?dup
  (Reported 4 times)		 - r.(32__4233dup) p.(fs*) DMD_e2e30b - germline (inherited) Juan ESHG2008 P06.183 DNA MLPA - -
1i_33i c.32-?_4674+?del - r.(32_4674del) p.(fs*) DMD_e2e33 - germline (inherited) - DNA Southern - -
1i_33i c.32-?_4674+?dup - r.(32_4674dup) p.(fs*?) DMD_e2e33b - germline (inherited) Todorova 2008, Todorova, ESHG 2007 P0800 DNA MLPA - -
1i_34i c.32-?_4845+?dup - r.(32_4845dup) p.? DMD_e2e34b 772 Kb duplication germline (inherited) Saillour 2008 DNA arrayCGH, QF-PCR - -
1i_41i c.32-?_5922+?dup - r.(32_5922dup) p.(fs*) DMD_e2e41b - germline (inherited) Tuffery-Giraud 2009, UMD-369 DNA MLPA - -
1i_42i c.32-?_6117+?del - r.(32_6117del) p.(fs*) DMD_e2e42b - germline (inherited) Bovolenta, in press DNA MLPA - -
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Legend: [ DMD_d full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: number of exon/intron containing variant DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change DMD DB-ID: DB-ID Variant remarks: Variant remarks Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available) Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site

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