ClinVar Miner

List of variants in gene combination LOC126862500, MYH2, MYHAS reported as uncertain significance for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.5003G>A (p.Arg1668Gln) rs143022667 0.00048
NM_017534.6(MYH2):c.4583G>A (p.Arg1528His) rs142934668 0.00040
NM_017534.6(MYH2):c.4442G>A (p.Arg1481His) rs199751037 0.00022
NM_017534.6(MYH2):c.4582C>T (p.Arg1528Cys) rs377584935 0.00017
NM_017534.6(MYH2):c.4697G>A (p.Arg1566His) rs200732220 0.00017
NM_017534.6(MYH2):c.4724A>C (p.Lys1575Thr) rs113713308 0.00007
NM_017534.6(MYH2):c.4361A>G (p.Asn1454Ser) rs371923594 0.00006
NM_017534.6(MYH2):c.5041G>A (p.Glu1681Lys) rs144934663 0.00006
NM_017534.6(MYH2):c.5002C>T (p.Arg1668Trp) rs569489518 0.00005
NM_017534.6(MYH2):c.4556C>T (p.Thr1519Met) rs138796340 0.00004
NM_017534.6(MYH2):c.5025A>C (p.Glu1675Asp) rs374743981 0.00004
NM_017534.6(MYH2):c.5045G>A (p.Arg1682His) rs145099248 0.00004
NM_017534.6(MYH2):c.5105A>G (p.Glu1702Gly) rs769912069 0.00004
NM_017534.6(MYH2):c.4376T>C (p.Leu1459Pro) rs765135888 0.00003
NM_017534.6(MYH2):c.4406C>T (p.Thr1469Met) rs760961929 0.00003
NM_017534.6(MYH2):c.4573G>A (p.Gly1525Arg) rs910402127 0.00003
NM_017534.6(MYH2):c.4918C>T (p.Arg1640Cys) rs375371672 0.00003
NM_017534.6(MYH2):c.4546T>A (p.Ser1516Thr) rs778405343 0.00002
NM_017534.6(MYH2):c.4798G>A (p.Val1600Met) rs774036368 0.00002
NM_017534.6(MYH2):c.5087C>A (p.Ala1696Asp) rs1050339515 0.00002
NM_017534.6(MYH2):c.5115A>G (p.Arg1705=) rs1042270 0.00002
NM_017534.6(MYH2):c.4366G>A (p.Asp1456Asn) rs761573741 0.00001
NM_017534.6(MYH2):c.4369A>G (p.Lys1457Glu) rs776886264 0.00001
NM_017534.6(MYH2):c.4424C>A (p.Ala1475Asp) rs938120515 0.00001
NM_017534.6(MYH2):c.4441C>T (p.Arg1481Cys) rs990939157 0.00001
NM_017534.6(MYH2):c.4517G>A (p.Arg1506Gln) rs1049022189 0.00001
NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys) rs529367667 0.00001
NM_017534.6(MYH2):c.4817C>T (p.Thr1606Met) rs768621451 0.00001
NM_017534.6(MYH2):c.4919G>A (p.Arg1640His) rs772914345 0.00001
NM_017534.6(MYH2):c.4961G>C (p.Gly1654Ala) rs1126556 0.00001
NM_017534.6(MYH2):c.4966C>T (p.Leu1656Phe) rs369083161 0.00001
NM_017534.6(MYH2):c.5030T>G (p.Leu1677Arg) rs2073325642 0.00001
NM_017534.6(MYH2):c.5095G>C (p.Glu1699Gln) rs1321342402 0.00001
NM_017534.6(MYH2):c.4360A>G (p.Asn1454Asp)
NM_017534.6(MYH2):c.4372-11del rs2073341840
NM_017534.6(MYH2):c.4372-19A>G
NM_017534.6(MYH2):c.4390C>A (p.Gln1464Lys)
NM_017534.6(MYH2):c.4431G>C (p.Gln1477His)
NM_017534.6(MYH2):c.4439C>T (p.Ala1480Val) rs1303566428
NM_017534.6(MYH2):c.4478C>T (p.Ala1493Val) rs1034624770
NM_017534.6(MYH2):c.4489T>A (p.Ser1497Thr)
NM_017534.6(MYH2):c.4517G>C (p.Arg1506Pro) rs1049022189
NM_017534.6(MYH2):c.4521G>C (p.Glu1507Asp) rs753714787
NM_017534.6(MYH2):c.4523A>G (p.Asn1508Ser) rs764004345
NM_017534.6(MYH2):c.4529A>C (p.Asn1510Thr) rs1165680648
NM_017534.6(MYH2):c.4534C>G (p.Gln1512Glu)
NM_017534.6(MYH2):c.4537+5G>C rs1131691628
NM_017534.6(MYH2):c.4553T>C (p.Leu1518Pro)
NM_017534.6(MYH2):c.4556C>A (p.Thr1519Lys)
NM_017534.6(MYH2):c.4568C>A (p.Ala1523Glu)
NM_017534.6(MYH2):c.4570G>A (p.Glu1524Lys)
NM_017534.6(MYH2):c.4571_4573del (p.Glu1524del) rs774357063
NM_017534.6(MYH2):c.4572A>C (p.Glu1524Asp) rs1243834294
NM_017534.6(MYH2):c.4581A>T (p.Lys1527Asn) rs2142293289
NM_017534.6(MYH2):c.4585A>G (p.Ile1529Val) rs2073336915
NM_017534.6(MYH2):c.4603A>G (p.Ile1535Val) rs2073336612
NM_017534.6(MYH2):c.4616T>G (p.Val1539Gly) rs2142293220
NM_017534.6(MYH2):c.4629G>C (p.Lys1543Asn) rs776862337
NM_017534.6(MYH2):c.4642G>C (p.Ala1548Pro) rs947669039
NM_017534.6(MYH2):c.4642G>T (p.Ala1548Ser)
NM_017534.6(MYH2):c.4662G>A (p.Glu1554=)
NM_017534.6(MYH2):c.4663G>C (p.Ala1555Pro)
NM_017534.6(MYH2):c.4667C>G (p.Ser1556Cys)
NM_017534.6(MYH2):c.4675C>T (p.His1559Tyr) rs1597448095
NM_017534.6(MYH2):c.4684G>A (p.Gly1562Arg) rs1555569889
NM_017534.6(MYH2):c.4691T>C (p.Ile1564Thr) rs2073333613
NM_017534.6(MYH2):c.4733T>C (p.Val1578Ala)
NM_017534.6(MYH2):c.4737T>A (p.Asp1579Glu)
NM_017534.6(MYH2):c.4739G>C (p.Arg1580Thr) rs2142292793
NM_017534.6(MYH2):c.4745T>C (p.Ile1582Thr)
NM_017534.6(MYH2):c.4795A>G (p.Ile1599Val)
NM_017534.6(MYH2):c.4829A>T (p.Glu1610Val) rs2142292645
NM_017534.6(MYH2):c.4875G>C (p.Glu1625Asp)
NM_017534.6(MYH2):c.4876G>A (p.Gly1626Arg)
NM_017534.6(MYH2):c.4882C>A (p.Leu1628Ile)
NM_017534.6(MYH2):c.4882C>T (p.Leu1628Phe) rs2142292545
NM_017534.6(MYH2):c.4886A>G (p.Asn1629Ser)
NM_017534.6(MYH2):c.4893G>C (p.Met1631Ile)
NM_017534.6(MYH2):c.4916A>T (p.Asn1639Ile)
NM_017534.6(MYH2):c.4937T>C (p.Leu1646Pro)
NM_017534.6(MYH2):c.4944C>A (p.Asn1648Lys)
NM_017534.6(MYH2):c.4953C>G (p.Asn1651Lys)
NM_017534.6(MYH2):c.4971+6T>C
NM_017534.6(MYH2):c.4973A>G (p.Asp1658Gly)
NM_017534.6(MYH2):c.4976C>T (p.Thr1659Ile)
NM_017534.6(MYH2):c.4981A>C (p.Ile1661Leu)
NM_017534.6(MYH2):c.4997C>G (p.Ala1666Gly) rs773964603
NM_017534.6(MYH2):c.4997C>T (p.Ala1666Val)
NM_017534.6(MYH2):c.5014G>A (p.Asp1672Asn) rs1204274669
NM_017534.6(MYH2):c.5026C>G (p.Gln1676Glu)
NM_017534.6(MYH2):c.5033C>T (p.Ala1678Val)
NM_017534.6(MYH2):c.5035A>G (p.Met1679Val)
NM_017534.6(MYH2):c.5044C>T (p.Arg1682Cys)
NM_017534.6(MYH2):c.5053A>G (p.Asn1685Asp)
NM_017534.6(MYH2):c.5072T>C (p.Ile1691Thr) rs2073324867
NM_017534.6(MYH2):c.5074G>A (p.Glu1692Lys)
NM_017534.6(MYH2):c.5084G>A (p.Arg1695Gln)
NM_017534.6(MYH2):c.5106G>C (p.Glu1702Asp)
NM_017534.6(MYH2):c.5113A>G (p.Arg1705Gly)
NM_017534.6(MYH2):c.5122G>A (p.Ala1708Thr) rs147813930
NM_017534.6(MYH2):c.5129A>G (p.Gln1710Arg) rs2142291882

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