ClinVar Miner

List of variants in gene MYBPC3 reported as uncertain significance by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn) rs369300885 0.00002
NM_000256.3(MYBPC3):c.1549G>T (p.Ala517Ser) rs1565627873 0.00001
NM_000256.3(MYBPC3):c.493G>A (p.Glu165Lys) rs867067602 0.00001
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly) rs730880633
NM_000256.3(MYBPC3):c.1432_1436delinsGC (p.Ser478_Glu479delinsAla) rs2142861363
NM_000256.3(MYBPC3):c.1543_1545del (p.Asn515del) rs730880643

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