ClinVar Miner

List of variants in gene MYBPC3 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 54
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HGVS dbSNP
NM_000256.3(MYBPC3):c.-11C>T rs762719022
NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=) rs758016271
NM_000256.3(MYBPC3):c.108A>G (p.Ala36=) rs754870909
NM_000256.3(MYBPC3):c.1104G>A (p.Lys368=) rs1565628536
NM_000256.3(MYBPC3):c.1222A>G (p.Ser408Gly) rs730880638
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His) rs374255707
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln) rs776734314
NM_000256.3(MYBPC3):c.1433C>T (p.Ser478Leu) rs730880540
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.145A>T (p.Ile49Phe) rs760058908
NM_000256.3(MYBPC3):c.1461G>A (p.Leu487=) rs1565627976
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247
NM_000256.3(MYBPC3):c.1510_1512AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1816G>A (p.Val606Ile) rs368482358
NM_000256.3(MYBPC3):c.1822C>T (p.Pro608Ser) rs730880552
NM_000256.3(MYBPC3):c.1827C>G (p.Ala609=) rs535853707
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) rs727503194
NM_000256.3(MYBPC3):c.1850T>C (p.Val617Ala) rs898001027
NM_000256.3(MYBPC3):c.1919C>T (p.Pro640Leu) rs755244836
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His) rs1800565
NM_000256.3(MYBPC3):c.202G>A (p.Val68Met) rs1199851911
NM_000256.3(MYBPC3):c.2034T>C (p.Ala678=) rs757832991
NM_000256.3(MYBPC3):c.2171G>A (p.Arg724Gln) rs756102881
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) rs534345197
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) rs368104687
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His) rs730880568
NM_000256.3(MYBPC3):c.2599A>G (p.Ile867Val) rs768339148
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln) rs727504378
NM_000256.3(MYBPC3):c.2737+9C>T rs1565624501
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp) rs534366414
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2938C>G (p.Arg980Gly) rs397515994
NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu) rs730880610
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser) rs150786409
NM_000256.3(MYBPC3):c.3229G>T (p.Ala1077Ser) rs397516009
NM_000256.3(MYBPC3):c.3404_3406ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3628-6T>C rs1057520329
NM_000256.3(MYBPC3):c.3668A>G (p.Glu1223Gly) rs372821359
NM_000256.3(MYBPC3):c.534G>T (p.Val178=) rs759249105
NM_000256.3(MYBPC3):c.566T>A (p.Val189Asp) rs397516060
NM_000256.3(MYBPC3):c.568A>G (p.Lys190Glu) rs777665200
NM_000256.3(MYBPC3):c.602G>A (p.Ser201Asn) rs1395414085
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
NM_000256.3(MYBPC3):c.676A>G (p.Ile226Val) rs1336201335
NM_000256.3(MYBPC3):c.754T>C (p.Phe252Leu) rs1565630281
NM_000256.3(MYBPC3):c.776C>G (p.Ala259Gly) rs187455402
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745
NM_000256.3(MYBPC3):c.906-7G>T rs397516079

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