ClinVar Miner

List of variants in gene DMD reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile) rs369055628 0.00008
NM_004006.3(DMD):c.733A>G (p.Ile245Val) rs140510985 0.00008
NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile) rs1057519106 0.00006
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys) rs145739725 0.00005
NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp) rs199808421 0.00005
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu) rs398123982 0.00005
NM_004006.3(DMD):c.104A>C (p.Gln35Pro) rs1477107648 0.00002
NM_004006.3(DMD):c.10975G>A (p.Val3659Met) rs768532317 0.00002
NM_004006.3(DMD):c.3971G>A (p.Arg1324His) rs768990357 0.00002
NM_004006.3(DMD):c.4604C>T (p.Thr1535Met) rs1431604157 0.00002
NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys) rs377039314 0.00002
NM_004006.3(DMD):c.6760A>C (p.Lys2254Gln) rs201818335 0.00002
NM_004006.3(DMD):c.8226A>G (p.Gln2742=) rs746514008 0.00002
NM_004006.3(DMD):c.10712G>A (p.Arg3571His) rs935091512 0.00001
NM_004006.3(DMD):c.284G>T (p.Gly95Val) rs1381812538 0.00001
NM_004006.3(DMD):c.2991C>T (p.Tyr997=) rs863224992 0.00001
NM_004006.3(DMD):c.3986C>T (p.Thr1329Ile) rs770827878 0.00001
NM_004006.3(DMD):c.4383C>T (p.Phe1461=) rs752977828 0.00001
NM_004006.3(DMD):c.4505T>G (p.Leu1502Arg) rs745462674 0.00001
NM_004006.3(DMD):c.5601A>C (p.Gln1867His) rs1057519179 0.00001
NM_004006.3(DMD):c.8509G>A (p.Asp2837Asn) rs965718917 0.00001
NM_004006.3(DMD):c.10034G>A (p.Arg3345Gln)
NM_004006.3(DMD):c.10034G>C (p.Arg3345Pro) rs2041036250
NM_004006.3(DMD):c.10085C>G (p.Pro3362Arg) rs1569423459
NM_004006.3(DMD):c.10178G>A (p.Gly3393Asp)
NM_004006.3(DMD):c.10373G>A (p.Ser3458Asn)
NM_004006.3(DMD):c.10604G>T (p.Gly3535Val) rs1555998259
NM_004006.3(DMD):c.10921+7G>T rs1060504677
NM_004006.3(DMD):c.1102A>G (p.Ile368Val)
NM_004006.3(DMD):c.11054T>C (p.Met3685Thr) rs1464917165
NM_004006.3(DMD):c.1195A>G (p.Ile399Val) rs2146821417
NM_004006.3(DMD):c.1211G>C (p.Ser404Thr)
NM_004006.3(DMD):c.1223G>T (p.Gly408Val)
NM_004006.3(DMD):c.1329C>T (p.Ser443=) rs1060502631
NM_004006.3(DMD):c.1462C>A (p.Arg488Ser) rs758932385
NM_004006.3(DMD):c.1583C>T (p.Ala528Val) rs753624531
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser) rs145739725
NM_004006.3(DMD):c.2648T>G (p.Leu883Arg)
NM_004006.3(DMD):c.266T>C (p.Val89Ala) rs1557058441
NM_004006.3(DMD):c.2981_2982delinsTA (p.Ser994Ile)
NM_004006.3(DMD):c.319A>T (p.Thr107Ser)
NM_004006.3(DMD):c.3229G>T (p.Ala1077Ser)
NM_004006.3(DMD):c.3355G>T (p.Ala1119Ser)
NM_004006.3(DMD):c.3611A>T (p.Lys1204Ile) rs1603633687
NM_004006.3(DMD):c.3850G>A (p.Glu1284Lys) rs1557359192
NM_004006.3(DMD):c.4292A>G (p.Asn1431Ser)
NM_004006.3(DMD):c.5128C>A (p.Pro1710Thr)
NM_004006.3(DMD):c.5260G>A (p.Glu1754Lys)
NM_004006.3(DMD):c.5278C>T (p.Leu1760Phe)
NM_004006.3(DMD):c.5326-6T>C
NM_004006.3(DMD):c.5684A>G (p.Asp1895Gly) rs376202643
NM_004006.3(DMD):c.5713G>C (p.Glu1905Gln)
NM_004006.3(DMD):c.5922+7T>C
NM_004006.3(DMD):c.5923-12T>G rs2148596650
NM_004006.3(DMD):c.6442C>T (p.Leu2148Phe)
NM_004006.3(DMD):c.7009T>G (p.Leu2337Val) rs1603513931
NM_004006.3(DMD):c.76A>G (p.Asn26Asp) rs1057521321
NM_004006.3(DMD):c.7784T>G (p.Val2595Gly)
NM_004006.3(DMD):c.8169G>C (p.Arg2723Ser) rs1569139778
NM_004006.3(DMD):c.8539G>A (p.Val2847Ile)
NM_004006.3(DMD):c.8830G>A (p.Asp2944Asn)
NM_004006.3(DMD):c.902A>G (p.Tyr301Cys) rs769658853
NM_004006.3(DMD):c.9176G>C (p.Gly3059Ala) rs2056577235
NM_004006.3(DMD):c.9602C>T (p.Thr3201Ile)

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