ClinVar Miner

List of variants studied for Duchenne muscular dystrophy by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP
DMD, 1-BP DEL, 10334C AND IVS69, G-T, +1
DMD, 1-BP DEL, 10662T
DMD, 1-BP DEL, 2568C
DMD, 1-BP DEL, 6408C
DMD, 1-BP DEL, 724C
DMD, 1-BP INS, 402A
DMD, 1-BP INS, 7188A
DMD, 1-BP INS, EX12
DMD, 1-BP INS, NT1554
DMD, 1-BP INS, NT2928
DMD, 11-BP DEL, NT989
DMD, 17-BP DEL, NT6982
DMD, 4-BP DEL, NT9679
DMD, 52-BP DEL
DMD, 8-BP DEL, 1-BP INS, NT10692
DMD, AG-T, EX48
DMD, EX18DEL
DMD, EX21DEL
DMD, EX73-76DEL
DMD, IVS47, G-A, +1, EX48DEL
DMD, IVS65, G-A, +1
DMD, IVS68, T-A, +2
DMD, IVS70, G-T, +5
NM_000109.3(DMD):c.700C>T (p.Gln234Ter) rs128626238
NM_004006.2(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.2(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.2(DMD):c.1489C>T (p.Gln497Ter) rs128626241
NM_004006.2(DMD):c.161T>G (p.Leu54Arg) rs128626231
NM_004006.2(DMD):c.178C>T (p.Gln60Ter) rs128626233
NM_004006.2(DMD):c.1952G>A (p.Trp651Ter) rs128626242
NM_004006.2(DMD):c.2017C>T (p.Gln673Ter) rs128626232
NM_004006.2(DMD):c.2302C>T (p.Arg768Ter) rs201366610
NM_004006.2(DMD):c.2308A>T (p.Lys770Ter) rs128626243
NM_004006.2(DMD):c.2314G>T (p.Glu772Ter) rs267606770
NM_004006.2(DMD):c.2317A>G (p.Lys773Glu) rs128626244
NM_004006.2(DMD):c.253C>T (p.Gln85Ter) rs128626234
NM_004006.2(DMD):c.2791G>T (p.Glu931Ter) rs128625227
NM_004006.2(DMD):c.3121C>T (p.Gln1041Ter) rs128626245
NM_004006.2(DMD):c.3188G>A (p.Trp1063Ter) rs128626246
NM_004006.2(DMD):c.3469G>T (p.Glu1157Ter) rs128625226
NM_004006.2(DMD):c.3603+2T>G
NM_004006.2(DMD):c.377delA (p.Asn126Ilefs)
NM_004006.2(DMD):c.4213C>T (p.Gln1405Ter) rs128626247
NM_004006.2(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.2(DMD):c.4414C>T (p.Gln1472Ter) rs128626248
NM_004006.2(DMD):c.5551C>T (p.Gln1851Ter) rs128625228
NM_004006.2(DMD):c.5899C>T (p.Arg1967Ter) rs128626249
NM_004006.2(DMD):c.5985T>G (p.Tyr1995Ter) rs128627257
NM_004006.2(DMD):c.6292C>T (p.Arg2098Ter) rs128626250
NM_004006.2(DMD):c.6373C>T (p.Gln2125Ter) rs128626251
NM_004006.2(DMD):c.6790C>T (p.Gln2264Ter) rs128626252
NM_004006.2(DMD):c.6955C>T (p.Gln2319Ter) rs128625230
NM_004006.2(DMD):c.7402G>T (p.Glu2468Ter) rs128626253
NM_004006.2(DMD):c.748G>T (p.Glu250Ter) rs128626239
NM_004006.2(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
NM_004006.2(DMD):c.8729A>T (p.Glu2910Val) rs41305353
NM_004006.2(DMD):c.8734A>G (p.Asn2912Asp) rs1800278
NM_004006.2(DMD):c.8944C>T (p.Arg2982Ter) rs128625229
NM_004006.2(DMD):c.9197C>A (p.Ser3066Ter) rs128626254
NM_004006.2(DMD):c.9568C>T (p.Arg3190Ter) rs104894797

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