ClinVar Miner

List of variants in gene MYBPC3 reported as pathogenic by Integrated Genetics/Laboratory Corporation of America

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Total variants: 20
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HGVS dbSNP
NM_000256.3(MYBPC3):c.1168delC (p.His390Metfs) rs397515889
NM_000256.3(MYBPC3):c.1235_1236delTT (p.Phe412Terfs) rs397515894
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.177_187delAGAGGGCACAC (p.Glu60Alafs) rs397515925
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.2372_2373insG (p.Trp792Valfs) rs397515963
NM_000256.3(MYBPC3):c.2490dupT (p.His831Serfs) rs397515966
NM_000256.3(MYBPC3):c.2556_2557delCGinsTCT (p.Gly853Leufs) rs397515975
NM_000256.3(MYBPC3):c.2864_2865delCT (p.Pro955Argfs) rs397515990
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958
NM_000256.3(MYBPC3):c.3288delG (p.Glu1096Aspfs) rs727503172
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter) rs193922383
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.3742_3759dup18 (p.Cys1253_Arg1254insGlyGlyIleTyrValCys) rs193922384
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.927-9G>A rs397516083

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