ClinVar Miner

List of variants in gene MYBPC3 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr) rs730880692 0.00001
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp) rs534366414 0.00001
NM_000256.3(MYBPC3):c.3142C>T (p.Arg1048Cys) rs11570113 0.00001
NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys) rs551119259 0.00001
NM_000256.3(MYBPC3):c.1010C>T (p.Ala337Val) rs1356431718
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter) rs397516006
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.3785C>T (p.Ala1262Val) rs2095877651
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080

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