ClinVar Miner

List of variants reported as likely pathogenic for Duchenne muscular dystrophy

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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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.(?_31514895)_(31676271_?)del
NC_000023.10:g.(?_31613687)_(31645989_?)dup
NC_000023.10:g.(?_31645790)_(31676261_?)del
NC_000023.10:g.(?_31676087)_(31747885_?)dup
NC_000023.10:g.(?_31676087)_(31950364_?)del
NC_000023.10:g.(?_31792057)_(32867957_?)del
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.(?_32380885)_(32383336_?)del
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.(?_32632410)_(32669194_?)del
NC_000023.10:g.(?_32715967)_(32841967_?)del
NC_000023.10:g.(?_32715967)_(32867957_?)del
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
NM_004006.2(DMD):c.10507_10508AG[1] (p.Glu3505fs) rs878854366
NM_004006.2(DMD):c.10797+1G>A rs1060502626
NM_004006.2(DMD):c.1149+1G>A rs1060502634
NM_004006.2(DMD):c.2292+2T>G rs1557396600
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.479_481CCA[1] (p.Thr161del) rs1569528101
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.6913-11_6918del rs1556962571
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.8391-1_8391delinsAA rs1060502619
NM_004006.2(DMD):c.8391-2A>G rs1556665303
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.94_264dup
NM_004006.2(DMD):c.961-5831C>T rs398124099
NM_004006.2(DMD):c.9650-4_9655del rs1060502653
NM_004006.2:c.94_3786dup
Single allele

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