ClinVar Miner

List of variants in gene MYOZ2 reported as uncertain significance for Cardiovascular phenotype

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_016599.5(MYOZ2):c.146A>G (p.His49Arg) rs148908208 0.00024
NM_016599.5(MYOZ2):c.583T>A (p.Phe195Ile) rs554299359 0.00013
NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu) rs200791464 0.00008
NM_016599.5(MYOZ2):c.745A>G (p.Thr249Ala) rs762234986 0.00006
NM_016599.5(MYOZ2):c.403C>A (p.Pro135Thr) rs144720577 0.00004
NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu) rs200428820 0.00004
NM_016599.5(MYOZ2):c.19A>G (p.Met7Val) rs746027670 0.00003
NM_016599.5(MYOZ2):c.311C>T (p.Ala104Val) rs772659939 0.00002
NM_016599.5(MYOZ2):c.376+2T>C rs112675369 0.00002
NM_016599.5(MYOZ2):c.11A>T (p.His4Leu) rs376901669 0.00001
NM_016599.5(MYOZ2):c.181C>T (p.Arg61Cys) rs755233280 0.00001
NM_016599.5(MYOZ2):c.247-3C>T rs774202003 0.00001
NM_016599.5(MYOZ2):c.275T>C (p.Val92Ala) rs764229797 0.00001
NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter) rs374655743 0.00001
NM_016599.5(MYOZ2):c.497T>C (p.Leu166Ser) rs1227160156 0.00001
NM_016599.5(MYOZ2):c.749C>T (p.Thr250Ile) rs774131437 0.00001
NM_016599.5(MYOZ2):c.-3A>G rs372377840
NM_016599.5(MYOZ2):c.119G>A (p.Arg40Lys)
NM_016599.5(MYOZ2):c.124A>T (p.Ile42Phe)
NM_016599.5(MYOZ2):c.129G>C (p.Met43Ile)
NM_016599.5(MYOZ2):c.135del (p.Glu46fs)
NM_016599.5(MYOZ2):c.141A>T (p.Leu47Phe)
NM_016599.5(MYOZ2):c.178A>T (p.Met60Leu) rs2149221474
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser) rs397517289
NM_016599.5(MYOZ2):c.181C>G (p.Arg61Gly) rs755233280
NM_016599.5(MYOZ2):c.193T>G (p.Ser65Ala)
NM_016599.5(MYOZ2):c.198C>A (p.Asp66Glu)
NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu) rs368392953
NM_016599.5(MYOZ2):c.20T>C (p.Met7Thr)
NM_016599.5(MYOZ2):c.217T>A (p.Phe73Ile)
NM_016599.5(MYOZ2):c.221A>G (p.Gln74Arg)
NM_016599.5(MYOZ2):c.222G>T (p.Gln74His)
NM_016599.5(MYOZ2):c.238C>A (p.Gln80Lys)
NM_016599.5(MYOZ2):c.246+4G>A
NM_016599.5(MYOZ2):c.253A>C (p.Ile85Leu)
NM_016599.5(MYOZ2):c.255T>G (p.Ile85Met)
NM_016599.5(MYOZ2):c.272A>G (p.Lys91Arg)
NM_016599.5(MYOZ2):c.295G>A (p.Gly99Ser)
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg) rs76757102
NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter) rs138061447
NM_016599.5(MYOZ2):c.328A>T (p.Asn110Tyr)
NM_016599.5(MYOZ2):c.331A>G (p.Thr111Ala)
NM_016599.5(MYOZ2):c.362A>G (p.Asp121Gly)
NM_016599.5(MYOZ2):c.383C>G (p.Ser128Cys)
NM_016599.5(MYOZ2):c.383C>T (p.Ser128Phe)
NM_016599.5(MYOZ2):c.386G>A (p.Gly129Glu)
NM_016599.5(MYOZ2):c.517C>A (p.Pro173Thr)
NM_016599.5(MYOZ2):c.561-5C>T
NM_016599.5(MYOZ2):c.57G>A (p.Met19Ile)
NM_016599.5(MYOZ2):c.592G>T (p.Ala198Ser)
NM_016599.5(MYOZ2):c.673C>A (p.Pro225Thr)
NM_016599.5(MYOZ2):c.702G>C (p.Arg234Ser)
NM_016599.5(MYOZ2):c.711G>C (p.Lys237Asn)
NM_016599.5(MYOZ2):c.718A>G (p.Ile240Val) rs1064796685
NM_016599.5(MYOZ2):c.737T>C (p.Ile246Thr)
NM_016599.5(MYOZ2):c.748A>C (p.Thr250Pro)
NM_016599.5(MYOZ2):c.767C>G (p.Thr256Ser)
NM_016599.5(MYOZ2):c.790C>G (p.Leu264Val)
NM_016599.5(MYOZ2):c.88A>G (p.Met30Val)

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