ClinVar Miner

List of variants in gene MYBPC3 reported as uncertain significance by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973 0.00076
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu) rs373056282 0.00008
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln) rs727504378 0.00007
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg) rs202147520 0.00007
NM_000256.3(MYBPC3):c.2560A>G (p.Met854Val) rs373171036 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.479G>A (p.Arg160Gln) rs730880617 0.00004
NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala) rs545675333 0.00004
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.2125G>A (p.Asp709Asn) rs886039029 0.00003
NM_000256.3(MYBPC3):c.373G>T (p.Ala125Ser) rs370958401 0.00003
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) rs730880573 0.00002
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.1397T>A (p.Met466Lys) rs397515899 0.00001
NM_000256.3(MYBPC3):c.317C>G (p.Pro106Arg) rs986848670 0.00001
NM_000256.3(MYBPC3):c.3284C>T (p.Thr1095Met) rs755653624 0.00001
NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro) rs397516048 0.00001
NM_000256.3(MYBPC3):c.916C>T (p.Arg306Trp) rs753884765 0.00001
NM_000256.3(MYBPC3):c.1112C>G (p.Pro371Arg) rs397515887
NM_000256.3(MYBPC3):c.1379T>G (p.Leu460Trp) rs1595846382
NM_000256.3(MYBPC3):c.1466A>T (p.Asp489Val) rs1555122204
NM_000256.3(MYBPC3):c.1859G>T (p.Gly620Val) rs730880556
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.2063C>T (p.Thr688Met) rs3729946
NM_000256.3(MYBPC3):c.20A>C (p.Lys7Thr) rs1595851193
NM_000256.3(MYBPC3):c.2956A>G (p.Lys986Glu) rs876657871
NM_000256.3(MYBPC3):c.3142C>A (p.Arg1048Ser) rs11570113
NM_000256.3(MYBPC3):c.3166G>C (p.Ala1056Pro) rs2095879417
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser) rs150786409
NM_000256.3(MYBPC3):c.3224C>T (p.Thr1075Ile) rs150786409
NM_000256.3(MYBPC3):c.3256T>C (p.Trp1086Arg) rs1595841556
NM_000256.3(MYBPC3):c.3326C>A (p.Thr1109Asn) rs397516016
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000256.3(MYBPC3):c.3788G>C (p.Arg1263Pro) rs781180230
NM_000256.3(MYBPC3):c.754T>C (p.Phe252Leu) rs1565630281
NM_000256.3(MYBPC3):c.776C>G (p.Ala259Gly) rs187455402

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