ClinVar Miner

List of variants in gene MYBPC3 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 81
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HGVS dbSNP
NM_000256.3(MYBPC3):c.1080G>C (p.Lys360Asn) rs730880632
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly) rs730880633
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val) rs11570077
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs) rs730880724
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1238A>G (p.Glu413Gly) rs730880532
NM_000256.3(MYBPC3):c.1256G>A (p.Arg419His) rs770030288
NM_000256.3(MYBPC3):c.1291G>A (p.Asp431Asn) rs753321277
NM_000256.3(MYBPC3):c.1418T>C (p.Phe473Ser) rs397515900
NM_000256.3(MYBPC3):c.1504del (p.Arg502fs) rs1555122188
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1624+3G>C rs730880690
NM_000256.3(MYBPC3):c.1644C>G (p.Tyr548Ter) rs1565627615
NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser) rs727504887
NM_000256.3(MYBPC3):c.165C>A (p.Tyr55Ter) rs780012957
NM_000256.3(MYBPC3):c.1669G>A (p.Gly557Ser) rs730880693
NM_000256.3(MYBPC3):c.1685C>A (p.Ala562Glu) rs730880694
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg) rs730880695
NM_000256.3(MYBPC3):c.1720C>T (p.Arg574Trp) rs61897383
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) rs730880551
NM_000256.3(MYBPC3):c.1809del (p.Ile603fs) rs1064794471
NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) rs730880553
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200
NM_000256.3(MYBPC3):c.1897+4A>C rs730880557
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.1978G>A (p.Val660Met) rs730880560
NM_000256.3(MYBPC3):c.208G>T (p.Glu70Ter) rs11570045
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met) rs564378953
NM_000256.3(MYBPC3):c.230G>A (p.Gly77Glu) rs730880580
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302
NM_000256.3(MYBPC3):c.2324C>G (p.Pro775Arg) rs730880564
NM_000256.3(MYBPC3):c.2334del (p.Lys779fs) rs1057518030
NM_000256.3(MYBPC3):c.235T>A (p.Tyr79Asn) rs730880581
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2414-2_2414-1delinsTCCA rs1555121260
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs) rs730880653
NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs) rs730880654
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His) rs730880568
NM_000256.3(MYBPC3):c.25G>C (p.Val9Leu) rs1064793201
NM_000256.3(MYBPC3):c.2602+2T>G rs1555121145
NM_000256.3(MYBPC3):c.2610dup (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2739del (p.Ser914fs) rs730880660
NM_000256.3(MYBPC3):c.275_276del (p.Leu92fs) rs1057517766
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2906-1G>C rs1409755826
NM_000256.3(MYBPC3):c.2942A>C (p.Gln981Pro) rs730880582
NM_000256.3(MYBPC3):c.3019T>C (p.Trp1007Arg) rs730880585
NM_000256.3(MYBPC3):c.3217del (p.Arg1073fs) rs730880668
NM_000256.3(MYBPC3):c.3305T>A (p.Val1102Glu) rs730880590
NM_000256.3(MYBPC3):c.3491-3C>A rs730880592
NM_000256.3(MYBPC3):c.3491-3C>G rs730880592
NM_000256.3(MYBPC3):c.3541C>G (p.Pro1181Ala) rs730880593
NM_000256.3(MYBPC3):c.3581C>T (p.Ala1194Val) rs730880594
NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val) rs730880595
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro) rs730880702
NM_000256.3(MYBPC3):c.3716A>G (p.Glu1239Gly) rs1085308024
NM_000256.3(MYBPC3):c.3726del (p.Lys1242fs) rs1064796231
NM_000256.3(MYBPC3):c.373_374del (p.Ala124_Ala125insTer) rs1057517767
NM_000256.3(MYBPC3):c.3740A>G (p.Asp1247Gly) rs1085307978
NM_000256.3(MYBPC3):c.3764_3766CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3781G>T (p.Glu1261Ter) rs730880141
NM_000256.3(MYBPC3):c.3782_3792delinsCCTG (p.Glu1261fs) rs1085307897
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) rs397514751
NM_000256.3(MYBPC3):c.3814+1G>A rs1057521823
NM_000256.3(MYBPC3):c.3814G>A (p.Val1272Met) rs730880609
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.450del (p.Asp151fs) rs730880677
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) rs730880573
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp) rs730880619
NM_000256.3(MYBPC3):c.571T>C (p.Trp191Arg) rs730880622
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu) rs886039000
NM_000256.3(MYBPC3):c.747C>A (p.Cys249Ter) rs771929829
NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs) rs745811346

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