ClinVar Miner

List of variants in gene MYH3 reported as likely pathogenic by GeneDx

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.700G>A (p.Ala234Thr) rs121913623 0.00001
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002470.4(MYH3):c.2099T>C (p.Leu700Pro) rs1064796483
NM_002470.4(MYH3):c.2306G>A (p.Gly769Asp) rs2142400622
NM_002470.4(MYH3):c.2621T>C (p.Leu874Pro) rs1064793203
NM_002470.4(MYH3):c.271A>C (p.Met91Leu) rs79952473
NM_002470.4(MYH3):c.326G>A (p.Arg109His) rs773615398
NM_002470.4(MYH3):c.3568_3576del (p.Val1190_Ala1192del) rs2142395389
NM_002470.4(MYH3):c.3611T>C (p.Leu1204Pro) rs1057518008
NM_002470.4(MYH3):c.4525G>T (p.Glu1509Ter)
NM_002470.4(MYH3):c.4726_4729del (p.Lys1576fs)
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del) rs1555527166
NM_002470.4(MYH3):c.803T>C (p.Leu268Pro) rs1064794980

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