ClinVar Miner

List of variants in gene MYH7 reported as uncertain significance by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe) rs201012865 0.00002
NM_000257.4(MYH7):c.3730A>C (p.Asn1244His) rs200746981 0.00001
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr) rs143362532 0.00001
NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly) rs200157204 0.00001
NM_000257.4(MYH7):c.2795T>C (p.Met932Thr) rs202097576
NM_000257.4(MYH7):c.3055A>G (p.Thr1019Ala) rs200714763
NM_000257.4(MYH7):c.3442G>A (p.Glu1148Lys) rs786205355
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4240C>A (p.Leu1414Met) rs201895208
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_000257.4(MYH7):c.5503G>A (p.Glu1835Lys) rs758436258

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