ClinVar Miner

List of variants reported as pathogenic for Duchenne muscular dystrophy by Mendelics

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ClinVar version:
Total variants: 186
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HGVS dbSNP
NM_000109.4(DMD):c.10053T>G (p.Tyr3351Ter)
NM_000109.4(DMD):c.10062+1G>T rs398123828
NM_000109.4(DMD):c.10063-1G>A
NM_000109.4(DMD):c.10200-1dup
NM_000109.4(DMD):c.10609_10610dup (p.Met3537fs)
NM_000109.4(DMD):c.1120del (p.His374fs)
NM_000109.4(DMD):c.1123G>T (p.Glu375Ter)
NM_000109.4(DMD):c.1126-2A>T
NM_000109.4(DMD):c.1465C>T (p.Gln489Ter) rs128626241
NM_000109.4(DMD):c.1640_1643dup (p.Asp548fs)
NM_000109.4(DMD):c.1710dup (p.Glu571fs)
NM_000109.4(DMD):c.1726A>T (p.Lys576Ter)
NM_000109.4(DMD):c.1753C>T (p.Gln585Ter)
NM_000109.4(DMD):c.1764del (p.Met588fs)
NM_000109.4(DMD):c.1767dup (p.Ser590fs)
NM_000109.4(DMD):c.1942C>T (p.Gln648Ter)
NM_000109.4(DMD):c.1993C>T (p.Gln665Ter) rs128626232
NM_000109.4(DMD):c.2040dup (p.Thr681fs)
NM_000109.4(DMD):c.2077del (p.Glu693fs)
NM_000109.4(DMD):c.2090del (p.Pro697fs)
NM_000109.4(DMD):c.2145-1G>A
NM_000109.4(DMD):c.2263_2268+12del
NM_000109.4(DMD):c.2278C>T (p.Arg760Ter) rs201366610
NM_000109.4(DMD):c.2356+1G>A
NM_000109.4(DMD):c.2383del (p.Gln795fs)
NM_000109.4(DMD):c.240+5G>A
NM_000109.4(DMD):c.241-463A>G
NM_000109.4(DMD):c.2412G>A (p.Trp804Ter) rs398123889
NM_000109.4(DMD):c.2418del (p.Glu806fs)
NM_000109.4(DMD):c.2424C>A (p.Cys808Ter)
NM_000109.4(DMD):c.2437G>T (p.Glu813Ter)
NM_000109.4(DMD):c.2548_2554del (p.Thr850fs)
NM_000109.4(DMD):c.2598+1G>T
NM_000109.4(DMD):c.2618C>A (p.Ser873Ter)
NM_000109.4(DMD):c.2684del (p.Gly895fs)
NM_000109.4(DMD):c.2766_2767AG[1] (p.Glu923fs)
NM_000109.4(DMD):c.2829del (p.Arg944fs)
NM_000109.4(DMD):c.2926-2A>G rs398123915
NM_000109.4(DMD):c.2936del (p.Ser979fs)
NM_000109.4(DMD):c.2989G>T (p.Glu997Ter)
NM_000109.4(DMD):c.3035C>G (p.Ser1012Ter) rs398123919
NM_000109.4(DMD):c.3052G>T (p.Glu1018Ter) rs398123920
NM_000109.4(DMD):c.3086_3087del (p.Val1029fs)
NM_000109.4(DMD):c.3133dup (p.Ile1045fs)
NM_000109.4(DMD):c.3169del (p.Ala1057fs)
NM_000109.4(DMD):c.3233del (p.Lys1078fs)
NM_000109.4(DMD):c.3271_3272del (p.Gln1091fs)
NM_000109.4(DMD):c.3364_3365dup (p.Leu1123fs) rs1557369413
NM_000109.4(DMD):c.3436G>T (p.Gly1146Ter)
NM_000109.4(DMD):c.3509_3512del (p.Glu1170fs)
NM_000109.4(DMD):c.3579+2T>A rs146071084
NM_000109.4(DMD):c.3579+2_3579+3insTA
NM_000109.4(DMD):c.3579+2dup rs796523999
NM_000109.4(DMD):c.3615del (p.Lys1205_Val1206insTer)
NM_000109.4(DMD):c.3673C>T (p.Gln1225Ter)
NM_000109.4(DMD):c.3689del (p.Lys1230fs) rs1557362198
NM_000109.4(DMD):c.3771G>A (p.Trp1257Ter)
NM_000109.4(DMD):c.3819G>A (p.Trp1273Ter)
NM_000109.4(DMD):c.3956del (p.Ala1319fs)
NM_000109.4(DMD):c.420del (p.Arg141fs)
NM_000109.4(DMD):c.4270C>T (p.Gln1424Ter)
NM_000109.4(DMD):c.4282_4285del (p.Ala1428fs)
NM_000109.4(DMD):c.4290_4291del (p.Arg1431fs) rs398123950
NM_000109.4(DMD):c.4291del (p.Arg1431fs)
NM_000109.4(DMD):c.429T>G (p.Tyr143Ter)
NM_000109.4(DMD):c.4303C>T (p.Gln1435Ter)
NM_000109.4(DMD):c.4326dup (p.Leu1443fs)
NM_000109.4(DMD):c.4328T>G (p.Leu1443Ter)
NM_000109.4(DMD):c.4390C>T (p.Gln1464Ter) rs128626248
NM_000109.4(DMD):c.4399A>T (p.Lys1467Ter)
NM_000109.4(DMD):c.4414G>T (p.Glu1472Ter)
NM_000109.4(DMD):c.4453_4469del (p.Val1485fs)
NM_000109.4(DMD):c.4512_4516del (p.Val1507_Lys1508insTer)
NM_000109.4(DMD):c.4636G>T (p.Glu1546Ter)
NM_000109.4(DMD):c.4658_4661AAAG[1] (p.Arg1554fs)
NM_000109.4(DMD):c.4660A>T (p.Arg1554Ter)
NM_000109.4(DMD):c.4669C>T (p.Gln1557Ter)
NM_000109.4(DMD):c.4834_4835GA[1] (p.Glu1612fs)
NM_000109.4(DMD):c.4956G>A (p.Trp1652Ter)
NM_000109.4(DMD):c.5032C>T (p.Gln1678Ter)
NM_000109.4(DMD):c.5143G>T (p.Glu1715Ter)
NM_000109.4(DMD):c.5231T>G (p.Leu1744Ter)
NM_000109.4(DMD):c.5334del (p.Phe1778fs)
NM_000109.4(DMD):c.5352del (p.Lys1784fs)
NM_000109.4(DMD):c.548C>A (p.Ser183Ter)
NM_000109.4(DMD):c.5539C>T (p.Gln1847Ter) rs1569559097
NM_000109.4(DMD):c.5612G>A (p.Trp1871Ter)
NM_000109.4(DMD):c.5665G>T (p.Glu1889Ter)
NM_000109.4(DMD):c.5665dup (p.Glu1889fs)
NM_000109.4(DMD):c.5673dup (p.Leu1892fs) rs794727661
NM_000109.4(DMD):c.5797dup (p.Ala1933fs)
NM_000109.4(DMD):c.5999C>G (p.Ser2000Ter)
NM_000109.4(DMD):c.611_612dup (p.Leu205fs)
NM_000109.4(DMD):c.6127del (p.Arg2043fs)
NM_000109.4(DMD):c.6276del (p.Asp2092fs)
NM_000109.4(DMD):c.6332G>A (p.Trp2111Ter)
NM_000109.4(DMD):c.6333G>A (p.Trp2111Ter)
NM_000109.4(DMD):c.6340_6341del (p.Glu2114fs)
NM_000109.4(DMD):c.642T>G (p.Tyr214Ter)
NM_000109.4(DMD):c.669C>G (p.Tyr223Ter)
NM_000109.4(DMD):c.685del (p.Gln229fs)
NM_000109.4(DMD):c.6889-1G>T
NM_000109.4(DMD):c.6889-2A>T
NM_000109.4(DMD):c.69+1G>T
NM_000109.4(DMD):c.69_69+14del
NM_000109.4(DMD):c.7+127978del
NM_000109.4(DMD):c.7+127982G>A
NM_000109.4(DMD):c.7074+1G>A
NM_000109.4(DMD):c.7285+1G>T
NM_000109.4(DMD):c.750dup (p.Lys251Ter)
NM_000109.4(DMD):c.7540C>T (p.Gln2514Ter)
NM_000109.4(DMD):c.7681C>T (p.Gln2561Ter)
NM_000109.4(DMD):c.7693C>T (p.Gln2565Ter)
NM_000109.4(DMD):c.7834dup (p.Ile2612fs)
NM_000109.4(DMD):c.7848+1G>A
NM_000109.4(DMD):c.7848+2T>A
NM_000109.4(DMD):c.798T>A (p.Tyr266Ter)
NM_000109.4(DMD):c.8003+1G>T
NM_000109.4(DMD):c.8121dup (p.Gln2708fs)
NM_000109.4(DMD):c.8122C>T (p.Gln2708Ter)
NM_000109.4(DMD):c.815del (p.Val272fs)
NM_000109.4(DMD):c.8254C>T (p.Gln2752Ter)
NM_000109.4(DMD):c.8275G>T (p.Glu2759Ter)
NM_000109.4(DMD):c.8302del (p.Gln2768fs)
NM_000109.4(DMD):c.833dup (p.Tyr278Ter) rs1556929259
NM_000109.4(DMD):c.8367-1G>A
NM_000109.4(DMD):c.8393del (p.Gln2798fs)
NM_000109.4(DMD):c.8427del (p.Leu2810fs)
NM_000109.4(DMD):c.8436G>A (p.Trp2812Ter)
NM_000109.4(DMD):c.8545del (p.Thr2849fs)
NM_000109.4(DMD):c.8645-2A>T
NM_000109.4(DMD):c.8707del (p.Val2903fs)
NM_000109.4(DMD):c.8720G>A (p.Trp2907Ter)
NM_000109.4(DMD):c.8722del (p.Glu2908fs)
NM_000109.4(DMD):c.8773del (p.Glu2926fs)
NM_000109.4(DMD):c.8793del (p.Gln2932fs)
NM_000109.4(DMD):c.8899del (p.Leu2967fs)
NM_000109.4(DMD):c.8913+1G>C
NM_000109.4(DMD):c.8998C>T (p.Gln3000Ter)
NM_000109.4(DMD):c.9061_9062insA (p.Val3021fs)
NM_000109.4(DMD):c.9161_9162AG[2] (p.Arg3055fs)
NM_000109.4(DMD):c.9243_9244AG[1] (p.Glu3082fs)
NM_000109.4(DMD):c.9320del (p.Leu3107fs)
NM_000109.4(DMD):c.9356C>A (p.Ser3119Ter)
NM_000109.4(DMD):c.937-1G>A
NM_000109.4(DMD):c.947del (p.Ala316fs)
NM_000109.4(DMD):c.9539+1G>T
NM_000109.4(DMD):c.9540-2A>G
NM_000109.4(DMD):c.9625+5G>C
NM_000109.4(DMD):c.9706del (p.Ile3236fs)
NM_000109.4(DMD):c.974C>A (p.Ser325Ter)
NM_000109.4(DMD):c.9784-2A>T
NM_000109.4(DMD):c.9844del (p.Gln3282fs)
NM_000109.4(DMD):c.9863_9884del (p.Pro3288fs)
NM_000109.4(DMD):c.9926_9927del (p.Lys3309fs)
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs) rs886043375
NM_004006.2(DMD):c.1329C>T (p.Ser443=) rs1060502631
NM_004006.2(DMD):c.2869C>T (p.Gln957Ter)
NM_004006.2(DMD):c.4231C>T (p.Gln1411Ter) rs1010666282
NM_004006.2(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.2(DMD):c.4591C>T (p.Gln1531Ter) rs1557320194
NM_004006.2(DMD):c.4996C>T (p.Arg1666Ter) rs398123973
NM_004006.2(DMD):c.5026-2A>G rs1569559849
NM_004006.2(DMD):c.531-1G>C rs1569526579
NM_004006.2(DMD):c.5371C>T (p.Gln1791Ter) rs1569559204
NM_004006.2(DMD):c.589G>T (p.Glu197Ter) rs1340365803
NM_004006.2(DMD):c.6283C>T (p.Arg2095Ter)
NM_004006.2(DMD):c.799C>T (p.Gln267Ter) rs878854383
NM_004006.2(DMD):c.8027+1G>A rs1556789913
NM_004006.2(DMD):c.9563+1G>A rs886043989
NM_004010.3(DMD):c.-107_-106dup
NM_004010.3(DMD):c.-14del rs1557058308
NM_004010.3(DMD):c.-312del
NM_004010.3(DMD):c.-317del
NM_004010.3(DMD):c.-331del
NM_004013.2(DMD):c.-313del
NM_004013.2(DMD):c.-352G>A
NM_004013.2(DMD):c.-353G>A
NM_004013.2(DMD):c.-354del
NM_004013.2(DMD):c.-621A>T
NM_004013.2(DMD):c.-627C>T
NM_004013.2(DMD):c.-771_-770del
NM_004020.3(DMD):c.2843+5106C>G
NM_004020.3(DMD):c.2843+6294del rs1556028034
NM_004020.3(DMD):c.2843+9102C>T
NM_004020.3(DMD):c.2843+9167AG[2]

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