ClinVar Miner

List of variants in gene MYBPC3 reported by OMIM

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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.1469G>T (p.Gly490Val) rs397514752
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.175A>G (p.Thr59Ala) rs121909375
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) rs727503190
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2309-26A>G rs886041030
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) rs397515973
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) rs371401403
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267
NM_000256.3(MYBPC3):c.2843A>C (p.Asn948Thr) rs121909376
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397
NM_000256.3(MYBPC3):c.3330+5G>A rs373746463
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378
NM_000256.3(MYBPC3):c.3490+1G>A rs397516020
NM_000256.3(MYBPC3):c.3628-34_3628-10del rs397514444
NM_000256.3(MYBPC3):c.3659_3662delACCTinsTTCAAGAATGGC rs886041031
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) rs397514751
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.906-1G>C rs587776700
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080

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