ClinVar Miner

List of variants in gene DMD reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 249
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HGVS dbSNP
NC_000023.11:g.(?_31121813)_(31121950_?)dup
NC_000023.11:g.(?_31203941)_(31364153_?)dup
NC_000023.11:g.(?_32348386)_(32365219_?)del
NC_000023.11:g.(?_32411732)_(32412229_?)dup
NC_000023.11:g.(?_32644112)_(32809631_?)dup
NC_000023.11:g.(?_32644944)_(32645172_?)dup
NC_000023.11:g.(?_33128127)_(33339285_?)dup
NC_000023.11:g.(?_33174335)_(33339285_?)dup
NM_000109.3(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000109.3(DMD):c.5465G>T (p.Arg1822Ile) rs369055628
NM_004006.2(DMD):c.10085C>T (p.Pro3362Leu)
NM_004006.2(DMD):c.10097_10099delGAG (p.Gly3366del) rs1060502613
NM_004006.2(DMD):c.10109G>C (p.Arg3370Pro) rs1556037455
NM_004006.2(DMD):c.1015G>A (p.Val339Ile) rs886044093
NM_004006.2(DMD):c.10211A>G (p.Asp3404Gly)
NM_004006.2(DMD):c.10223C>T (p.Thr3408Ile) rs777510517
NM_004006.2(DMD):c.10249C>G (p.Pro3417Ala) rs373898385
NM_004006.2(DMD):c.10306C>T (p.Arg3436Cys) rs768314745
NM_004006.2(DMD):c.10505A>T (p.Glu3502Val) rs773880226
NM_004006.2(DMD):c.10554-4A>G rs398123841
NM_004006.2(DMD):c.10592A>G (p.His3531Arg) rs886043324
NM_004006.2(DMD):c.10615C>G (p.Leu3539Val) rs367748290
NM_004006.2(DMD):c.1066C>T (p.Leu356Phe) rs199981454
NM_004006.2(DMD):c.10797+6G>A rs965185463
NM_004006.2(DMD):c.10846A>C (p.Thr3616Pro) rs368996545
NM_004006.2(DMD):c.10846A>G (p.Thr3616Ala) rs368996545
NM_004006.2(DMD):c.10879A>G (p.Met3627Val) rs886044628
NM_004006.2(DMD):c.10889G>A (p.Arg3630Gln) rs1057522606
NM_004006.2(DMD):c.1093C>G (p.Gln365Glu)
NM_004006.2(DMD):c.1094A>G (p.Gln365Arg) rs1216968523
NM_004006.2(DMD):c.10975G>A (p.Val3659Met) rs768532317
NM_004006.2(DMD):c.1097G>A (p.Gly366Glu) rs763144501
NM_004006.2(DMD):c.11023A>G (p.Thr3675Ala) rs768016083
NM_004006.2(DMD):c.11054T>C (p.Met3685Thr)
NM_004006.2(DMD):c.1139A>G (p.His380Arg) rs1556876185
NM_004006.2(DMD):c.1159A>G (p.Met387Val) rs770202940
NM_004006.2(DMD):c.1216C>G (p.Leu406Val)
NM_004006.2(DMD):c.1272G>A (p.Met424Ile)
NM_004006.2(DMD):c.1309G>C (p.Ala437Pro) rs748964279
NM_004006.2(DMD):c.1315A>G (p.Met439Val)
NM_004006.2(DMD):c.1329C>T (p.Ser443=) rs1060502631
NM_004006.2(DMD):c.1399A>T (p.Thr467Ser) rs1556853254
NM_004006.2(DMD):c.146G>A (p.Arg49His) rs765584669
NM_004006.2(DMD):c.1482+3A>G rs368825354
NM_004006.2(DMD):c.149T>A (p.Leu50His) rs1557084149
NM_004006.2(DMD):c.1523A>G (p.Asn508Ser) rs886044658
NM_004006.2(DMD):c.152T>C (p.Leu51Pro) rs886044089
NM_004006.2(DMD):c.1537A>G (p.Met513Val) rs368326458
NM_004006.2(DMD):c.1582G>A (p.Ala528Thr) rs201067368
NM_004006.2(DMD):c.1586T>C (p.Leu529Ser)
NM_004006.2(DMD):c.1597C>T (p.Leu533Phe) rs1556834538
NM_004006.2(DMD):c.1604T>C (p.Val535Ala) rs770149373
NM_004006.2(DMD):c.1654G>T (p.Val552Phe) rs748690103
NM_004006.2(DMD):c.1687C>A (p.Arg563Ser) rs145739725
NM_004006.2(DMD):c.1694C>T (p.Thr565Ile)
NM_004006.2(DMD):c.1745T>A (p.Val582Glu) rs1556809842
NM_004006.2(DMD):c.1813-3C>T rs181399181
NM_004006.2(DMD):c.1841A>C (p.Lys614Thr)
NM_004006.2(DMD):c.187-10_187-6delTTGTT rs1557079581
NM_004006.2(DMD):c.1877A>T (p.Asp626Val)
NM_004006.2(DMD):c.1946G>A (p.Arg649Gln)
NM_004006.2(DMD):c.2110C>T (p.Pro704Ser) rs1060502638
NM_004006.2(DMD):c.2126A>T (p.Gln709Leu) rs370459675
NM_004006.2(DMD):c.2143A>C (p.Thr715Pro) rs16998350
NM_004006.2(DMD):c.2169-7_2169-4delGTCT
NM_004006.2(DMD):c.2249T>C (p.Phe750Ser) rs377539940
NM_004006.2(DMD):c.2260G>T (p.Gly754Cys) rs369017141
NM_004006.2(DMD):c.2297T>C (p.Ile766Thr) rs1443021146
NM_004006.2(DMD):c.2375T>C (p.Val792Ala)
NM_004006.2(DMD):c.2418A>T (p.Glu806Asp)
NM_004006.2(DMD):c.2434T>A (p.Trp812Arg) rs1557383723
NM_004006.2(DMD):c.245G>C (p.Arg82Pro)
NM_004006.2(DMD):c.2473T>G (p.Trp825Gly) rs769988372
NM_004006.2(DMD):c.2486A>C (p.Gln829Pro) rs1557383647
NM_004006.2(DMD):c.2518C>G (p.Gln840Glu)
NM_004006.2(DMD):c.2539A>G (p.Thr847Ala) rs138145424
NM_004006.2(DMD):c.254A>G (p.Gln85Arg)
NM_004006.2(DMD):c.2551A>C (p.Asn851His) rs753665097
NM_004006.2(DMD):c.2572A>T (p.Thr858Ser) rs752670585
NM_004006.2(DMD):c.2585A>G (p.Glu862Gly) rs1557383527
NM_004006.2(DMD):c.2699A>T (p.Lys900Ile) rs1557380569
NM_004006.2(DMD):c.2714T>C (p.Met905Thr) rs1454170307
NM_004006.2(DMD):c.2720T>C (p.Leu907Pro) rs1060502654
NM_004006.2(DMD):c.2725G>A (p.Ala909Thr) rs1060502616
NM_004006.2(DMD):c.2726C>T (p.Ala909Val) rs370014420
NM_004006.2(DMD):c.2764T>G (p.Phe922Val) rs185395584
NM_004006.2(DMD):c.2848G>A (p.Ala950Thr) rs794728997
NM_004006.2(DMD):c.284G>T (p.Gly95Val) rs1381812538
NM_004006.2(DMD):c.2863G>T (p.Val955Phe) rs1060502657
NM_004006.2(DMD):c.289A>G (p.Thr97Ala) rs1557058403
NM_004006.2(DMD):c.2900T>G (p.Leu967Arg)
NM_004006.2(DMD):c.2912A>T (p.Asp971Val)
NM_004006.2(DMD):c.2938G>A (p.Gly980Arg)
NM_004006.2(DMD):c.2942A>G (p.Glu981Gly) rs1557374492
NM_004006.2(DMD):c.2949+5G>A
NM_004006.2(DMD):c.2950-9_2950-3del rs1557372619
NM_004006.2(DMD):c.295A>G (p.Ile99Val) rs149428656
NM_004006.2(DMD):c.3082C>T (p.Arg1028Cys) rs146384458
NM_004006.2(DMD):c.3093G>T (p.Lys1031Asn) rs1220406312
NM_004006.2(DMD):c.3190A>G (p.Met1064Val)
NM_004006.2(DMD):c.323T>C (p.Leu108Pro) rs1557058350
NM_004006.2(DMD):c.325G>C (p.Gly109Arg) rs1060502658
NM_004006.2(DMD):c.3271T>G (p.Cys1091Gly)
NM_004006.2(DMD):c.3362C>G (p.Pro1121Arg) rs1557369441
NM_004006.2(DMD):c.3403A>G (p.Asn1135Asp) rs753384771
NM_004006.2(DMD):c.3432+2036A>C rs182575709
NM_004006.2(DMD):c.3446A>C (p.Lys1149Thr) rs398123940
NM_004006.2(DMD):c.3508C>T (p.His1170Tyr)
NM_004006.2(DMD):c.357+5G>A
NM_004006.2(DMD):c.3647T>C (p.Leu1216Pro)
NM_004006.2(DMD):c.3674T>C (p.Ile1225Thr)
NM_004006.2(DMD):c.3679C>G (p.Gln1227Glu)
NM_004006.2(DMD):c.3713A>G (p.Lys1238Arg) rs150333718
NM_004006.2(DMD):c.3718C>A (p.Leu1240Ile) rs1557362186
NM_004006.2(DMD):c.3805C>T (p.His1269Tyr) rs151150099
NM_004006.2(DMD):c.3816G>T (p.Leu1272Phe) rs760733415
NM_004006.2(DMD):c.3925C>T (p.Leu1309Phe) rs1060502642
NM_004006.2(DMD):c.3971G>A (p.Arg1324His) rs768990357
NM_004006.2(DMD):c.4037C>T (p.Thr1346Ile) rs766890056
NM_004006.2(DMD):c.4040T>A (p.Phe1347Tyr) rs1466636716
NM_004006.2(DMD):c.4072-3T>C rs751657094
NM_004006.2(DMD):c.4105A>G (p.Ile1369Val) rs978977375
NM_004006.2(DMD):c.4201G>A (p.Val1401Met)
NM_004006.2(DMD):c.4233+4A>C rs1060502617
NM_004006.2(DMD):c.4296G>C (p.Gln1432His) rs747262903
NM_004006.2(DMD):c.4297G>C (p.Gly1433Arg) rs371601285
NM_004006.2(DMD):c.4300A>G (p.Lys1434Glu) rs771250421
NM_004006.2(DMD):c.4467A>C (p.Glu1489Asp) rs373162382
NM_004006.2(DMD):c.4505T>G (p.Leu1502Arg)
NM_004006.2(DMD):c.4510C>T (p.His1504Tyr) rs1469008607
NM_004006.2(DMD):c.4537A>C (p.Ser1513Arg)
NM_004006.2(DMD):c.4561A>G (p.Met1521Val) rs757350813
NM_004006.2(DMD):c.4675-11A>G rs1557316295
NM_004006.2(DMD):c.4762G>T (p.Ala1588Ser) rs749732729
NM_004006.2(DMD):c.4775T>C (p.Met1592Thr) rs398123966
NM_004006.2(DMD):c.4811C>G (p.Pro1604Arg) rs747218608
NM_004006.2(DMD):c.4862T>C (p.Ile1621Thr) rs377412251
NM_004006.2(DMD):c.494A>T (p.Asp165Val) rs1557052542
NM_004006.2(DMD):c.4951G>A (p.Asp1651Asn) rs1369953471
NM_004006.2(DMD):c.5047A>C (p.Thr1683Pro) rs1057515873
NM_004006.2(DMD):c.5068_5070delCAC (p.His1690del) rs761764494
NM_004006.2(DMD):c.5177A>G (p.Asp1726Gly) rs372917491
NM_004006.2(DMD):c.5230A>G (p.Asn1744Asp) rs376234802
NM_004006.2(DMD):c.5253A>G (p.Lys1751=) rs1557303579
NM_004006.2(DMD):c.5263C>T (p.Pro1755Ser) rs1057515872
NM_004006.2(DMD):c.5277G>T (p.Glu1759Asp)
NM_004006.2(DMD):c.531-11_531-6delATGTGT rs758404687
NM_004006.2(DMD):c.531-11_531-6dup rs758404687
NM_004006.2(DMD):c.5324_5325delAGinsGT (p.Lys1775Ser) rs1557303381
NM_004006.2(DMD):c.5326-3dupT rs398123988
NM_004006.2(DMD):c.5400A>C (p.Glu1800Asp) rs757290084
NM_004006.2(DMD):c.5531G>A (p.Arg1844Gln) rs751221923
NM_004006.2(DMD):c.5544G>T (p.Lys1848Asn)
NM_004006.2(DMD):c.5548A>G (p.Lys1850Glu) rs141261536
NM_004006.2(DMD):c.5599C>G (p.Gln1867Glu) rs144718274
NM_004006.2(DMD):c.5650A>G (p.Arg1884Gly) rs1557291149
NM_004006.2(DMD):c.5675G>A (p.Cys1892Tyr) rs137898199
NM_004006.2(DMD):c.5680G>C (p.Asp1894His)
NM_004006.2(DMD):c.5784A>G (p.Ala1928=) rs922803283
NM_004006.2(DMD):c.5801A>T (p.Glu1934Val) rs878854620
NM_004006.2(DMD):c.5864G>A (p.Arg1955His) rs200455300
NM_004006.2(DMD):c.5923-4C>G rs780118536
NM_004006.2(DMD):c.5929G>C (p.Val1977Leu) rs1314263909
NM_004006.2(DMD):c.5946G>A (p.Met1982Ile) rs1241760732
NM_004006.2(DMD):c.595G>C (p.Ala199Pro) rs1060502660
NM_004006.2(DMD):c.596C>A (p.Ala199Glu) rs1557047884
NM_004006.2(DMD):c.6052C>A (p.Leu2018Ile) rs367702968
NM_004006.2(DMD):c.6058G>C (p.Ala2020Pro) rs765460659
NM_004006.2(DMD):c.6067C>A (p.Leu2023Ile)
NM_004006.2(DMD):c.6067C>G (p.Leu2023Val) rs869312948
NM_004006.2(DMD):c.6068T>G (p.Leu2023Arg) rs1060502662
NM_004006.2(DMD):c.6092T>C (p.Leu2031Pro) rs886043520
NM_004006.2(DMD):c.626T>C (p.Ile209Thr) rs372832497
NM_004006.2(DMD):c.6409G>C (p.Glu2137Gln) rs1023328955
NM_004006.2(DMD):c.6431A>T (p.Tyr2144Phe)
NM_004006.2(DMD):c.6439-?_8217+?dup
NM_004006.2(DMD):c.6452G>A (p.Gly2151Asp) rs727503815
NM_004006.2(DMD):c.6464G>A (p.Arg2155Gln)
NM_004006.2(DMD):c.6535A>G (p.Ser2179Gly)
NM_004006.2(DMD):c.6545A>G (p.Gln2182Arg) rs749804804
NM_004006.2(DMD):c.657T>A (p.Asp219Glu)
NM_004006.2(DMD):c.6704G>A (p.Ser2235Asn) rs1316893006
NM_004006.2(DMD):c.6799C>A (p.Leu2267Ile) rs758654750
NM_004006.2(DMD):c.6814G>A (p.Glu2272Lys) rs1557010214
NM_004006.2(DMD):c.6839G>A (p.Ser2280Asn) rs1060502614
NM_004006.2(DMD):c.6863A>G (p.Gln2288Arg)
NM_004006.2(DMD):c.6896A>C (p.Asn2299Thr) rs747055774
NM_004006.2(DMD):c.7016A>G (p.His2339Arg) rs398124041
NM_004006.2(DMD):c.7019T>C (p.Leu2340Pro)
NM_004006.2(DMD):c.7065C>A (p.Asn2355Lys) rs759570455
NM_004006.2(DMD):c.7098+3A>T rs1556962217
NM_004006.2(DMD):c.7172A>G (p.Lys2391Arg) rs1556930538
NM_004006.2(DMD):c.7187C>T (p.Thr2396Ile) rs1057519106
NM_004006.2(DMD):c.7300A>G (p.Ile2434Val)
NM_004006.2(DMD):c.731G>A (p.Ser244Asn) rs751368412
NM_004006.2(DMD):c.7321A>C (p.Thr2441Pro) rs146817002
NM_004006.2(DMD):c.733A>G (p.Ile245Val) rs140510985
NM_004006.2(DMD):c.7402G>C (p.Glu2468Gln)
NM_004006.2(DMD):c.7450G>A (p.Asp2484Asn)
NM_004006.2(DMD):c.7450G>C (p.Asp2484His) rs773102625
NM_004006.2(DMD):c.7516A>G (p.Ile2506Val)
NM_004006.2(DMD):c.7538A>C (p.Gln2513Pro)
NM_004006.2(DMD):c.7585G>C (p.Glu2529Gln) rs771509836
NM_004006.2(DMD):c.7597G>A (p.Ala2533Thr)
NM_004006.2(DMD):c.7669A>G (p.Ile2557Val)
NM_004006.2(DMD):c.76A>C (p.Asn26His)
NM_004006.2(DMD):c.7747A>G (p.Thr2583Ala) rs773656507
NM_004006.2(DMD):c.7783G>T (p.Val2595Phe)
NM_004006.2(DMD):c.7795G>C (p.Ala2599Pro)
NM_004006.2(DMD):c.7802C>T (p.Ala2601Val)
NM_004006.2(DMD):c.7820A>T (p.Lys2607Met) rs72466581
NM_004006.2(DMD):c.7826G>A (p.Gly2609Asp) rs1060502649
NM_004006.2(DMD):c.7841A>G (p.Asp2614Gly)
NM_004006.2(DMD):c.7892G>A (p.Arg2631His) rs748007790
NM_004006.2(DMD):c.7919C>G (p.Ala2640Gly) rs146020545
NM_004006.2(DMD):c.8053G>A (p.Glu2685Lys) rs748937055
NM_004006.2(DMD):c.8150A>G (p.Asp2717Gly) rs886043271
NM_004006.2(DMD):c.8159G>A (p.Arg2720His) rs760495223
NM_004006.2(DMD):c.8212T>C (p.Trp2738Arg) rs372600090
NM_004006.2(DMD):c.8234T>C (p.Ile2745Thr) rs367735348
NM_004006.2(DMD):c.8239G>A (p.Ala2747Thr) rs772732788
NM_004006.2(DMD):c.8273A>T (p.Asn2758Ile)
NM_004006.2(DMD):c.831+5A>C
NM_004006.2(DMD):c.8399T>C (p.Leu2800Ser) rs398124071
NM_004006.2(DMD):c.8740G>C (p.Glu2914Gln) rs1556656366
NM_004006.2(DMD):c.877A>G (p.Lys293Glu) rs960307751
NM_004006.2(DMD):c.8806C>A (p.Leu2936Ile)
NM_004006.2(DMD):c.8858C>A (p.Ala2953Asp)
NM_004006.2(DMD):c.8895T>A (p.Asp2965Glu) rs781748062
NM_004006.2(DMD):c.8942T>C (p.Leu2981Pro)
NM_004006.2(DMD):c.8983G>A (p.Val2995Ile) rs148643665
NM_004006.2(DMD):c.9032C>T (p.Pro3011Leu) rs143925896
NM_004006.2(DMD):c.9094G>A (p.Glu3032Lys)
NM_004006.2(DMD):c.9224+5G>T rs1556503812
NM_004006.2(DMD):c.9287-27_9287-2del rs1064792968
NM_004006.2(DMD):c.9338G>A (p.Arg3113Gln) rs1556320083
NM_004006.2(DMD):c.938C>T (p.Thr313Ile) rs201799335
NM_004006.2(DMD):c.9415A>C (p.Lys3139Gln) rs1060502628
NM_004006.2(DMD):c.947C>T (p.Pro316Leu)
NM_004006.2(DMD):c.9525G>A (p.Val3175=) rs1060502622
NM_004006.2(DMD):c.9563+4C>T rs753666498
NM_004006.2(DMD):c.9580A>C (p.Ile3194Leu) rs181517869
NM_004006.2(DMD):c.9649T>C (p.Tyr3217His)
NM_004006.2(DMD):c.9695G>A (p.Arg3232His)
NM_004006.2(DMD):c.9790C>T (p.Arg3264Trp) rs373448002
NM_004006.2(DMD):c.9807+5G>A
NM_004006.2(DMD):c.9896A>G (p.His3299Arg)
NM_004006.2(DMD):c.9938G>A (p.Cys3313Tyr) rs886043597
NM_004006.2(DMD):c.9955T>C (p.Cys3319Arg) rs886044217

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