ClinVar Miner

List of variants in gene MYH11 reported as likely pathogenic by GeneDx

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp) rs886038932 0.00001
NM_002474.3(MYH11):c.1619G>A (p.Trp540Ter) rs794728666
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002474.3(MYH11):c.3001C>T (p.Arg1001Ter) rs1064795023
NM_002474.3(MYH11):c.726+1G>A rs778155466
NM_002474.3(MYH11):c.868G>C (p.Gly290Arg) rs794728672

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