ClinVar Miner

List of variants in gene combination LOC126861898, MYH7 reported as likely pathogenic by Laboratory of Genetics and Molecular Cardiology, University of São Paulo

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) rs397516157 0.00001
NM_000257.4(MYH7):c.2655T>A (p.Asn885Lys) rs863225095 0.00001
NM_000257.4(MYH7):c.2291T>A (p.Phe764Tyr) rs863225102
NM_000257.4(MYH7):c.2524A>G (p.Ser842Gly) rs863225103
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2542_2544del (p.Glu848del) rs863225099

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