ClinVar Miner

List of variants in gene LOC126862500, MYH2, MYHAS studied for Myopathy, proximal, and ophthalmoplegia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 160
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.5034C>T (p.Ala1678=) rs1042236 0.17365
NM_017534.6(MYH2):c.4989G>A (p.Leu1663=) rs61736461 0.00375
NM_017534.6(MYH2):c.4860C>G (p.Leu1620=) rs148538539 0.00234
NM_017534.6(MYH2):c.4379C>G (p.Ala1460Gly) rs148693677 0.00099
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827 0.00068
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.4537+7C>T rs375199452 0.00026
NM_017534.6(MYH2):c.4442G>A (p.Arg1481His) rs199751037 0.00022
NM_017534.6(MYH2):c.4972-15T>C rs566344021 0.00019
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.4407G>A (p.Thr1469=) rs144654838 0.00016
NM_017534.6(MYH2):c.4557G>A (p.Thr1519=) rs755267670 0.00016
NM_017534.6(MYH2):c.4722C>T (p.Val1574=) rs561798452 0.00011
NM_017534.6(MYH2):c.4971+8T>C rs199537007 0.00011
NM_017534.6(MYH2):c.4724A>C (p.Lys1575Thr) rs113713308 0.00007
NM_017534.6(MYH2):c.4932G>A (p.Glu1644=) rs145740522 0.00007
NM_017534.6(MYH2):c.4361A>G (p.Asn1454Ser) rs371923594 0.00006
NM_017534.6(MYH2):c.4818G>A (p.Thr1606=) rs201177363 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.5070G>A (p.Glu1690=) rs546668018 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.4812G>A (p.Gln1604=) rs781155016 0.00003
NM_017534.6(MYH2):c.4918C>T (p.Arg1640Cys) rs375371672 0.00003
NM_017534.6(MYH2):c.4537C>T (p.Gln1513Ter) rs929311433 0.00002
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.4839T>C (p.Ser1613=) rs1042185 0.00002
NM_017534.6(MYH2):c.5082G>A (p.Leu1694=) rs1462094022 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.4371+11C>A rs746440872 0.00001
NM_017534.6(MYH2):c.4372-15G>A rs190385121 0.00001
NM_017534.6(MYH2):c.4392G>A (p.Gln1464=) rs1245033619 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.4533A>G (p.Leu1511=) rs1467089006 0.00001
NM_017534.6(MYH2):c.4537+1G>A rs567336764 0.00001
NM_017534.6(MYH2):c.4554C>T (p.Leu1518=) rs375114012 0.00001
NM_017534.6(MYH2):c.4596G>A (p.Leu1532=) rs1449785747 0.00001
NM_017534.6(MYH2):c.4650A>G (p.Leu1550=) rs1386357039 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.4947C>T (p.Tyr1649=) rs3181659 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.4971+15G>C rs779161804 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.5121C>T (p.Ile1707=) rs780525531 0.00001
NM_017534.6(MYH2):c.4360A>G (p.Asn1454Asp)
NM_017534.6(MYH2):c.4365C>T (p.Phe1455=)
NM_017534.6(MYH2):c.4368T>C (p.Asp1456=)
NM_017534.6(MYH2):c.4371+12A>G
NM_017534.6(MYH2):c.4371+14C>T rs1182416611
NM_017534.6(MYH2):c.4371+15A>G
NM_017534.6(MYH2):c.4371+1del
NM_017534.6(MYH2):c.4371+8C>G rs368534809
NM_017534.6(MYH2):c.4372-11del rs2073341840
NM_017534.6(MYH2):c.4372-17A>C
NM_017534.6(MYH2):c.4390C>A (p.Gln1464Lys)
NM_017534.6(MYH2):c.4420G>T (p.Glu1474Ter)
NM_017534.6(MYH2):c.4431G>C (p.Gln1477His)
NM_017534.6(MYH2):c.4438del (p.Ala1480fs) rs2073340697
NM_017534.6(MYH2):c.4439C>T (p.Ala1480Val) rs1303566428
NM_017534.6(MYH2):c.4452C>A (p.Gly1484=) rs2073340376
NM_017534.6(MYH2):c.4478C>T (p.Ala1493Val) rs1034624770
NM_017534.6(MYH2):c.4489T>A (p.Ser1497Thr)
NM_017534.6(MYH2):c.4510del (p.Thr1503_Leu1504insTer)
NM_017534.6(MYH2):c.4511del (p.Leu1504fs) rs2142293598
NM_017534.6(MYH2):c.4516C>A (p.Arg1506=) rs1597448386
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+12T>C rs2142293495
NM_017534.6(MYH2):c.4537+1G>C rs567336764
NM_017534.6(MYH2):c.4537+2T>G rs2142293525
NM_017534.6(MYH2):c.4537+5G>C rs1131691628
NM_017534.6(MYH2):c.4537+9C>A
NM_017534.6(MYH2):c.4538-14T>C
NM_017534.6(MYH2):c.4556C>A (p.Thr1519Lys)
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.4639C>T (p.Gln1547Ter)
NM_017534.6(MYH2):c.4642G>C (p.Ala1548Pro) rs947669039
NM_017534.6(MYH2):c.4647T>C (p.Ala1549=)
NM_017534.6(MYH2):c.4662+15G>A rs2142293098
NM_017534.6(MYH2):c.4662+19A>G rs759241520
NM_017534.6(MYH2):c.4662+1G>A
NM_017534.6(MYH2):c.4662+2T>G rs1597448170
NM_017534.6(MYH2):c.4662G>A (p.Glu1554=)
NM_017534.6(MYH2):c.4663-1G>C
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.4731G>A (p.Glu1577=)
NM_017534.6(MYH2):c.4737T>A (p.Asp1579Glu)
NM_017534.6(MYH2):c.4739G>C (p.Arg1580Thr) rs2142292793
NM_017534.6(MYH2):c.4743A>G (p.Lys1581=) rs1267908976
NM_017534.6(MYH2):c.4756del (p.Asp1586fs)
NM_017534.6(MYH2):c.4770C>T (p.Asp1590=) rs1382560529
NM_017534.6(MYH2):c.4810C>T (p.Gln1604Ter) rs772613828
NM_017534.6(MYH2):c.4827T>C (p.Ala1609=) rs2142292649
NM_017534.6(MYH2):c.4829A>T (p.Glu1610Val) rs2142292645
NM_017534.6(MYH2):c.4836G>A (p.Arg1612=)
NM_017534.6(MYH2):c.4842del (p.Asn1615fs) rs2073330917
NM_017534.6(MYH2):c.4848T>C (p.Asp1616=)
NM_017534.6(MYH2):c.4875G>C (p.Glu1625Asp)
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.4894G>T (p.Glu1632Ter)
NM_017534.6(MYH2):c.4916A>T (p.Asn1639Ile)
NM_017534.6(MYH2):c.4937T>C (p.Leu1646Pro)
NM_017534.6(MYH2):c.4950G>A (p.Arg1650=) rs2142292423
NM_017534.6(MYH2):c.4953C>G (p.Asn1651Lys)
NM_017534.6(MYH2):c.4971+12C>T
NM_017534.6(MYH2):c.4971+6T>C
NM_017534.6(MYH2):c.4972-19A>G
NM_017534.6(MYH2):c.4972-2A>T rs201790813
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.5013G>A (p.Glu1671=) rs748695702
NM_017534.6(MYH2):c.5014G>A (p.Asp1672Asn) rs1204274669
NM_017534.6(MYH2):c.5026C>G (p.Gln1676Glu)
NM_017534.6(MYH2):c.5031G>C (p.Leu1677=) rs2142292077
NM_017534.6(MYH2):c.5033C>T (p.Ala1678Val)
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.5094G>A (p.Leu1698=)
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.