ClinVar Miner

List of variants studied for Duchenne muscular dystrophy by OMIM

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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_000109.4(DMD):c.1465C>T (p.Gln489Ter) rs128626241
NM_000109.4(DMD):c.1993C>T (p.Gln665Ter) rs128626232
NM_000109.4(DMD):c.2278C>T (p.Arg760Ter) rs201366610
NM_000109.4(DMD):c.2284A>T (p.Lys762Ter) rs128626243
NM_000109.4(DMD):c.2290G>T (p.Glu764Ter) rs267606770
NM_000109.4(DMD):c.2293A>G (p.Lys765Glu) rs128626244
NM_000109.4(DMD):c.3445G>T (p.Glu1149Ter) rs128625226
NM_000109.4(DMD):c.353del (p.Asn118fs) rs1569528138
NM_000109.4(DMD):c.4189C>T (p.Gln1397Ter) rs128626247
NM_000109.4(DMD):c.4390C>T (p.Gln1464Ter) rs128626248
NM_000109.4(DMD):c.5961T>G (p.Tyr1987Ter) rs128627257
NM_000109.4(DMD):c.700C>T (p.Gln234Ter) rs128626238
NM_000109.4(DMD):c.724G>T (p.Glu242Ter) rs128626239
NM_000109.4(DMD):c.7378G>T (p.Glu2460Ter) rs128626253
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.178C>T (p.Gln60Ter) rs128626233
NM_004006.2(DMD):c.1952G>A (p.Trp651Ter) rs128626242
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.3603+2T>G rs146071084
NM_004006.2(DMD):c.433C>T (p.Arg145Ter) rs128626235
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.6292C>T (p.Arg2098Ter) rs128626250
NM_004006.2(DMD):c.6373C>T (p.Gln2125Ter) rs128626251
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
NM_004010.3(DMD):c.-117C>T rs128626234
NM_004010.3(DMD):c.-209T>G rs128626231
NM_004013.2(DMD):c.-426C>T rs128625230
NM_004013.2(DMD):c.-591C>T rs128626252

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