ClinVar Miner

List of variants in gene MYO6 reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 0.00001
NM_004999.4(MYO6):c.1383G>C (p.Glu461Asp) rs727504548
NM_004999.4(MYO6):c.2111dup (p.Tyr705fs) rs397517045
NM_004999.4(MYO6):c.258_259delinsCTTTACTAAA (p.Tyr87fs) rs1583208411
NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter) rs876657653
NM_004999.4(MYO6):c.3207_3212delinsATCCTACATACTTAAAATTTCTT (p.Ala1070fs) rs727505015
NM_004999.4(MYO6):c.535G>T (p.Asp179Tyr) rs1554205683
NM_004999.4(MYO6):c.737A>G (p.His246Arg) rs121912560
NM_004999.4(MYO6):c.78del (p.Asp27fs) rs1771411002

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