ClinVar Miner

List of variants in gene LOC126861897, MHRT, MYH7 studied 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: 60
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=) rs3729830 0.14676
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln) rs730880808 0.00004
NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr) rs145822086 0.00004
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr) rs397516233 0.00004
NM_000257.4(MYH7):c.4872G>A (p.Glu1624=) rs766561921 0.00003
NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr) rs565663412 0.00003
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser) rs730880913 0.00002
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=) rs150241539 0.00002
NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val) rs1195157116 0.00002
NM_000257.4(MYH7):c.4953+14G>A rs758571263 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347 0.00001
NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln) rs730880806 0.00001
NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln) rs1257980330 0.00001
NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr) rs730880809 0.00001
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys) rs200530211 0.00001
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp) rs753115999 0.00001
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) rs730880914 0.00001
NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys) rs1358888752 0.00001
NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys) rs730880915 0.00001
NM_000257.4(MYH7):c.5066G>A (p.Arg1689His) rs772008016 0.00001
NM_000257.4(MYH7):c.5157G>A (p.Gln1719=) rs769875223 0.00001
NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr) rs144066768 0.00001
NM_000257.4(MYH7):c.4664A>G (p.Glu1555Gly) rs730880805
NM_000257.4(MYH7):c.4679G>C (p.Arg1560Pro) rs730880806
NM_000257.4(MYH7):c.4691A>C (p.Glu1564Ala)
NM_000257.4(MYH7):c.4699C>T (p.Gln1567Ter) rs1892204411
NM_000257.4(MYH7):c.4729G>A (p.Ala1577Thr) rs1892202753
NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr) rs1595073523
NM_000257.4(MYH7):c.4795A>C (p.Thr1599Pro) rs587779390
NM_000257.4(MYH7):c.4807G>C (p.Ala1603Pro) rs730880809
NM_000257.4(MYH7):c.4819A>G (p.Ser1607Gly) rs1892196940
NM_000257.4(MYH7):c.4823G>C (p.Arg1608Pro) rs587779391
NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys) rs730880810
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln) rs730880810
NM_000257.4(MYH7):c.4834C>G (p.Leu1612Val) rs397516229
NM_000257.4(MYH7):c.4835T>C (p.Leu1612Pro) rs587779392
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His) rs545875689
NM_000257.4(MYH7):c.4906G>C (p.Ala1636Pro) rs587779415
NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro) rs587779393
NM_000257.4(MYH7):c.4953+13A>T rs373509029
NM_000257.4(MYH7):c.4953+4C>T rs933520031
NM_000257.4(MYH7):c.4953+6C>A rs1892187663
NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro) rs1892176969
NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu) rs1006534868
NM_000257.4(MYH7):c.4985G>C (p.Arg1662Pro) rs370328209
NM_000257.4(MYH7):c.5005_5007del (p.Glu1669del) rs587779394
NM_000257.4(MYH7):c.5042T>C (p.Leu1681Pro)
NM_000257.4(MYH7):c.5087A>G (p.Glu1696Gly) rs1892168471
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.5158-16C>G
NM_000257.4(MYH7):c.5168T>C (p.Leu1723Pro)
NM_000257.4(MYH7):c.5173_5175del (p.Asn1725del)
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) rs367543052
NM_000257.4(MYH7):c.5177AGA[5] (p.Lys1729dup) rs367543052
NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val) rs397516240
NM_000257.4(MYH7):c.5208G>C (p.Gln1736His) rs886050416

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