ClinVar Miner

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

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.4379C>G (p.Ala1460Gly) rs148693677 0.00099
NM_017534.6(MYH2):c.4537+7C>T rs375199452 0.00026
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.4932G>A (p.Glu1644=) rs145740522 0.00007
NM_017534.6(MYH2):c.4818G>A (p.Thr1606=) rs201177363 0.00006
NM_017534.6(MYH2):c.5070G>A (p.Glu1690=) rs546668018 0.00004
NM_017534.6(MYH2):c.4812G>A (p.Gln1604=) rs781155016 0.00003
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.5115A>G (p.Arg1705=) rs1042270 0.00002
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.4533A>G (p.Leu1511=) rs1467089006 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.4947C>T (p.Tyr1649=) rs3181659 0.00001
NM_017534.6(MYH2):c.4971+15G>C rs779161804 0.00001
NM_017534.6(MYH2):c.5121C>T (p.Ile1707=) rs780525531 0.00001
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+8C>G rs368534809
NM_017534.6(MYH2):c.4372-17A>C
NM_017534.6(MYH2):c.4452C>A (p.Gly1484=) rs2073340376
NM_017534.6(MYH2):c.4516C>A (p.Arg1506=) rs1597448386
NM_017534.6(MYH2):c.4537+12T>C rs2142293495
NM_017534.6(MYH2):c.4537+9C>A
NM_017534.6(MYH2):c.4538-14T>C
NM_017534.6(MYH2):c.4590T>C (p.His1530=)
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.4731G>A (p.Glu1577=)
NM_017534.6(MYH2):c.4737T>C (p.Asp1579=)
NM_017534.6(MYH2):c.4743A>G (p.Lys1581=) rs1267908976
NM_017534.6(MYH2):c.4770C>T (p.Asp1590=) rs1382560529
NM_017534.6(MYH2):c.4827T>C (p.Ala1609=) rs2142292649
NM_017534.6(MYH2):c.4836G>A (p.Arg1612=)
NM_017534.6(MYH2):c.4848T>C (p.Asp1616=)
NM_017534.6(MYH2):c.4935C>T (p.Ala1645=)
NM_017534.6(MYH2):c.4950G>A (p.Arg1650=) rs2142292423
NM_017534.6(MYH2):c.4965C>T (p.Ile1655=)
NM_017534.6(MYH2):c.4971+12C>T
NM_017534.6(MYH2):c.4971+20G>T
NM_017534.6(MYH2):c.4972-17G>A
NM_017534.6(MYH2):c.4972-19A>G
NM_017534.6(MYH2):c.5013G>A (p.Glu1671=) rs748695702
NM_017534.6(MYH2):c.5031G>C (p.Leu1677=) rs2142292077
NM_017534.6(MYH2):c.5094G>A (p.Leu1698=)

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