ClinVar Miner

List of variants reported as likely pathogenic for Duchenne muscular dystrophy

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Minimum conflict level:
ClinVar version:
Total variants: 106
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HGVS dbSNP
NC_000023.10:g.(?_31191636)_(31526374_?)dup
NC_000023.10:g.(?_31332523)_(31986651_?)dup
NC_000023.10:g.(?_31366653)_(31382270_?)dup
NC_000023.10:g.(?_31514885)_(31950364_?)dup
NC_000023.10:g.(?_31613687)_(31645989_?)dup
NC_000023.10:g.(?_31676087)_(31747885_?)dup
NC_000023.10:g.(?_31838072)_(31893510_?)dup
NC_000023.10:g.(?_31838072)_(31983146_?)dup
NC_000023.10:g.(?_31838072)_(32563471_?)dup
NC_000023.10:g.(?_31854815)_(31986651_?)dup
NC_000023.10:g.(?_32235013)_(32408318_?)dup
NC_000023.10:g.(?_32235013)_(32519979_?)dup
NC_000023.10:g.(?_32305626)_(32366665_?)dup
NC_000023.10:g.(?_32305636)_(32305828_?)dup
NC_000023.10:g.(?_32305636)_(32366860_?)dup
NC_000023.10:g.(?_32305636)_(32584008_?)dup
NC_000023.10:g.(?_32472769)_(32536267_?)dup
NC_000023.10:g.(?_32536115)_(32632580_?)dup
NC_000023.10:g.(?_32563276)_(32563451_?)dup
NC_000023.10:g.(?_32632400)_(32867957_?)dup
NC_000023.10:g.(?_32715967)_(32867957_?)dup
NC_000023.10:g.(?_32827610)_(33229673_?)dup
NC_000023.10:g.(?_32834585)_(32862977_?)dup
NC_000023.10:g.(?_32841392)_(32841524_?)dup
NC_000023.10:g.(?_32841412)_(32841504_?)dup
NC_000023.11:g.(?_31146281)_(31147536_?)dup
NC_000023.11:g.(?_31177922)_(31223131_?)dup
NC_000023.11:g.(?_31203951)_(31210914_?)dup
NC_000023.11:g.(?_31496778)_(31658154_?)del
NC_000023.11:g.(?_31609621)_(31627872_?)dup
NC_000023.11:g.(?_31609621)_(31658154_?)del
NC_000023.11:g.(?_31609621)_(33020210_?)dup
NC_000023.11:g.(?_31627673)_(31658144_?)del
NC_000023.11:g.(?_31657980)_(31658154_?)dup
NC_000023.11:g.(?_31657980)_(31729758_?)dup
NC_000023.11:g.(?_31679365)_(31679596_?)dup
NC_000023.11:g.(?_31679365)_(31729758_?)del
NC_000023.11:g.(?_31773940)_(32849840_?)del
NC_000023.11:g.(?_31836708)_(32310286_?)dup
NC_000023.11:g.(?_32287519)_(32343296_?)dup
NC_000023.11:g.(?_32287519)_(32849830_?)dup
NC_000023.11:g.(?_32310072)_(32518150_?)dup
NC_000023.11:g.(?_32362768)_(32365219_?)del
NC_000023.11:g.(?_32438231)_(32485109_?)dup
NC_000023.11:g.(?_32454652)_(32699303_?)dup
NC_000023.11:g.(?_32472154)_(32472319_?)dup
NC_000023.11:g.(?_32491267)_(32518150_?)dup
NC_000023.11:g.(?_32501745)_(32501852_?)dup
NC_000023.11:g.(?_32614293)_(32651077_?)del
NC_000023.11:g.(?_32614293)_(32849830_?)dup
NC_000023.11:g.(?_32697850)_(32823850_?)del
NC_000023.11:g.(?_32697850)_(32849840_?)del
NC_000023.11:g.(?_32697860)_(32849830_?)del
NC_000023.11:g.31444471_31627872dup
NM_000109.4(DMD):c.6889-11_6894del rs1556962571
NM_000109.4(DMD):c.8367-1_8367delinsAA rs1060502619
NM_000109.4(DMD):c.8367-2A>G rs1556665303
NM_000109.4(DMD):c.9626-4_9631del rs1060502653
NM_004006.2(DMD):c.10797+5G>A rs398123846
NM_004006.2(DMD):c.1149+1G>A rs1060502634
NM_004006.2(DMD):c.1351G>T (p.Asp451Tyr)
NM_004006.2(DMD):c.2292+2T>G rs1557396600
NM_004006.2(DMD):c.2804-1G>T rs398123909
NM_004006.2(DMD):c.31+1G>C rs398123923
NM_004006.2(DMD):c.3432+2036A>G rs182575709
NM_004006.2(DMD):c.4000G>T (p.Gly1334Ter) rs146880270
NM_004006.2(DMD):c.4072-1G>T rs1060502637
NM_004006.2(DMD):c.4846-1G>T
NM_004006.2(DMD):c.5026-2A>G rs1569559849
NM_004006.2(DMD):c.5154+2T>C rs1569559822
NM_004006.2(DMD):c.6439-10_8217+32103dup
NM_004006.2(DMD):c.6614+3310G>T rs797045526
NM_004006.2(DMD):c.7085_7088dup (p.Asp2364fs) rs1556962271
NM_004006.2(DMD):c.7309+12789_7490del
NM_004006.2(DMD):c.832-15A>G rs72470513
NM_004006.2(DMD):c.8459G>A (p.Trp2820Ter) rs886039785
NM_004006.2(DMD):c.8547+1G>A rs1556665052
NM_004006.2(DMD):c.9225-285A>G rs587776747
NM_004006.2(DMD):c.9225-647A>G rs398124091
NM_004006.2(DMD):c.9287-27_9287-2del rs1064792968
NM_004006.2(DMD):c.94_264dup
NM_004006.2(DMD):c.961-5831C>T rs398124099
NM_004006.2(DMD):c.9807+5G>A rs1569460607
NM_004006.2(DMD):c.9938G>T (p.Cys3313Phe)
NM_004006.2:c.94_3786dup
NM_004006.3(DMD):c.1129del (p.Asp377fs)
NM_004006.3(DMD):c.1812+1G>A rs373286166
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter)
NM_004006.3(DMD):c.196A>T (p.Lys66Ter)
NM_004006.3(DMD):c.2461_2462GA[2] (p.Arg822fs)
NM_004006.3(DMD):c.2529del (p.Glu843fs)
NM_004006.3(DMD):c.2694dup (p.Glu899fs)
NM_004006.3(DMD):c.2803+5G>C
NM_004006.3(DMD):c.3277-2A>T
NM_004006.3(DMD):c.479_481CCA[1] (p.Thr161del) rs1569528101
NM_004006.3(DMD):c.6407G>A (p.Trp2136Ter)
NM_004006.3(DMD):c.650-1G>A
NM_004006.3(DMD):c.7309+1G>C
NM_004006.3(DMD):c.832-2A>C
NM_004006.3(DMD):c.9085-2A>G
NM_004006.3(DMD):c.9649+2dup
NM_004006.3(DMD):c.9959C>T (p.Pro3320Leu)
NM_004006.3(DMD):c.9971dup (p.Arg3325fs)
NM_004020.3(DMD):c.2843+6256_2843+6260dup
NM_004020.3(DMD):c.2843+9182_2843+9183del rs878854366
Single allele

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