ClinVar Miner

List of variants in gene MYBPC3 reported as uncertain significance for congenital anomaly of cardiovascular system

Included ClinVar conditions (333):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 183
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_000256.3(MYBPC3):c.*127G>A rs549519453 0.00018
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile) rs373519667 0.00017
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000256.3(MYBPC3):c.*275G>A rs916334281 0.00011
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val) rs370285346 0.00011
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys) rs752200396 0.00011
NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr) rs397516015 0.00011
NM_000256.3(MYBPC3):c.598A>G (p.Ser200Gly) rs370554185 0.00011
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_000256.3(MYBPC3):c.1565C>T (p.Ala522Val) rs370362589 0.00009
NM_000256.3(MYBPC3):c.3412C>T (p.Arg1138Cys) rs377171707 0.00009
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln) rs727504378 0.00007
NM_000256.3(MYBPC3):c.2765G>A (p.Gly922Glu) rs751224775 0.00007
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg) rs202147520 0.00007
NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys) rs397516075 0.00007
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) rs397515956 0.00006
NM_000256.3(MYBPC3):c.237C>T (p.Tyr79=) rs730880698 0.00006
NM_000256.3(MYBPC3):c.1672G>A (p.Ala558Thr) rs727503198 0.00005
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp) rs201596087 0.00005
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His) rs117354682 0.00005
NM_000256.3(MYBPC3):c.3799C>T (p.Arg1267Cys) rs765825263 0.00005
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln) rs397515885 0.00004
NM_000256.3(MYBPC3):c.1152C>T (p.Thr384=) rs775237084 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val) rs774172488 0.00004
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu) rs773819168 0.00004
NM_000256.3(MYBPC3):c.2807C>T (p.Thr936Met) rs374946555 0.00004
NM_000256.3(MYBPC3):c.2939G>A (p.Arg980His) rs727503179 0.00004
NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val) rs779884363 0.00004
NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr) rs397516026 0.00004
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys) rs397516033 0.00004
NM_000256.3(MYBPC3):c.479G>A (p.Arg160Gln) rs730880617 0.00004
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381 0.00004
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) rs11570060 0.00004
NM_000256.3(MYBPC3):c.*119C>A rs764758393 0.00003
NM_000256.3(MYBPC3):c.1021G>A (p.Gly341Ser) rs397515881 0.00003
NM_000256.3(MYBPC3):c.103C>T (p.Arg35Trp) rs727504249 0.00003
NM_000256.3(MYBPC3):c.121C>T (p.Arg41Cys) rs373638535 0.00003
NM_000256.3(MYBPC3):c.1601C>T (p.Ala534Val) rs374349666 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.2063C>A (p.Thr688Lys) rs3729946 0.00003
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) rs534345197 0.00003
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met) rs727503189 0.00003
NM_000256.3(MYBPC3):c.2683C>T (p.Arg895Cys) rs374976635 0.00003
NM_000256.3(MYBPC3):c.2828G>A (p.Arg943Gln) rs397515986 0.00003
NM_000256.3(MYBPC3):c.3229G>T (p.Ala1077Ser) rs397516009 0.00003
NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) rs543376073 0.00003
NM_000256.3(MYBPC3):c.852-14G>T rs751278539 0.00003
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met) rs727503208 0.00002
NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg) rs775837337 0.00002
NM_000256.3(MYBPC3):c.1454A>G (p.Lys485Arg) rs1185871136 0.00002
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys) rs397515939 0.00002
NM_000256.3(MYBPC3):c.2149-80G>A rs1041197781 0.00002
NM_000256.3(MYBPC3):c.2654C>T (p.Thr885Met) rs397515981 0.00002
NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp) rs369289966 0.00002
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000256.3(MYBPC3):c.3097C>T (p.Arg1033Trp) rs748909815 0.00002
NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His) rs769018051 0.00002
NM_000256.3(MYBPC3):c.3170C>T (p.Thr1057Met) rs754115924 0.00002
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) rs730880573 0.00002
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn) rs369300885 0.00002
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396 0.00002
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745 0.00002
NM_000256.3(MYBPC3):c.*293A>G rs886048365 0.00001
NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His) rs397515883 0.00001
NM_000256.3(MYBPC3):c.1113G>A (p.Pro371=) rs886048380 0.00001
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met) rs772073491 0.00001
NM_000256.3(MYBPC3):c.11C>T (p.Pro4Leu) rs748689012 0.00001
NM_000256.3(MYBPC3):c.1227-9C>A rs11570079 0.00001
NM_000256.3(MYBPC3):c.122G>A (p.Arg41His) rs764849803 0.00001
NM_000256.3(MYBPC3):c.1357C>G (p.Pro453Ala) rs749310275 0.00001
NM_000256.3(MYBPC3):c.1363C>T (p.Leu455Phe) rs747686377 0.00001
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His) rs374255707 0.00001
NM_000256.3(MYBPC3):c.1375C>T (p.Pro459Ser) rs758901980 0.00001
NM_000256.3(MYBPC3):c.1397T>A (p.Met466Lys) rs397515899 0.00001
NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met) rs730880543 0.00001
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247 0.00001
NM_000256.3(MYBPC3):c.1499A>C (p.Lys500Thr) rs761672176 0.00001
NM_000256.3(MYBPC3):c.1540A>G (p.Ile514Val) rs727503200 0.00001
NM_000256.3(MYBPC3):c.1549G>T (p.Ala517Ser) rs1565627873 0.00001
NM_000256.3(MYBPC3):c.1585A>T (p.Thr529Ser) rs1165486681 0.00001
NM_000256.3(MYBPC3):c.1638G>A (p.Glu546=) rs976630639 0.00001
NM_000256.3(MYBPC3):c.1809T>G (p.Ile603Met) rs774348756 0.00001
NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln) rs549239819 0.00001
NM_000256.3(MYBPC3):c.1897+3G>A rs937023392 0.00001
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr) rs397515941 0.00001
NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met) rs369790992 0.00001
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) rs368104687 0.00001
NM_000256.3(MYBPC3):c.2327C>T (p.Ala776Val) rs1188736507 0.00001
NM_000256.3(MYBPC3):c.2399G>A (p.Gly800Glu) rs1273374175 0.00001
NM_000256.3(MYBPC3):c.2512G>C (p.Glu838Gln) rs397515969 0.00001
NM_000256.3(MYBPC3):c.2613C>T (p.Ser871=) rs531228202 0.00001
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp) rs727504418 0.00001
NM_000256.3(MYBPC3):c.271G>A (p.Asp91Asn) rs778851720 0.00001
NM_000256.3(MYBPC3):c.2737+14C>A rs886048373 0.00001
NM_000256.3(MYBPC3):c.283A>C (p.Ile95Leu) rs549758428 0.00001
NM_000256.3(MYBPC3):c.2849C>A (p.Ala950Glu) rs730880577 0.00001
NM_000256.3(MYBPC3):c.2915G>A (p.Arg972Gln) rs761696555 0.00001
NM_000256.3(MYBPC3):c.2927C>G (p.Pro976Arg) rs954096716 0.00001
NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln) rs397516003 0.00001
NM_000256.3(MYBPC3):c.3109C>T (p.Arg1037Cys) rs758421775 0.00001
NM_000256.3(MYBPC3):c.3112G>A (p.Val1038Met) rs370223247 0.00001
NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp) rs368973872 0.00001
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys) rs368721523 0.00001
NM_000256.3(MYBPC3):c.355G>A (p.Glu119Lys) rs397516025 0.00001
NM_000256.3(MYBPC3):c.35T>C (p.Phe12Ser) rs1462884291 0.00001
NM_000256.3(MYBPC3):c.3605G>C (p.Cys1202Ser) rs727503170 0.00001
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171 0.00001
NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=) rs1255638075 0.00001
NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln) rs762225417 0.00001
NM_000256.3(MYBPC3):c.3815-12C>T rs764320767 0.00001
NM_000256.3(MYBPC3):c.451G>A (p.Asp151Asn) rs397516051 0.00001
NM_000256.3(MYBPC3):c.493G>A (p.Glu165Lys) rs867067602 0.00001
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp) rs730880619 0.00001
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu) rs886039000 0.00001
NM_000256.3(MYBPC3):c.821C>T (p.Thr274Met) rs748746951 0.00001
NM_000256.3(MYBPC3):c.901A>C (p.Lys301Gln) rs730880629 0.00001
NM_000256.3(MYBPC3):c.*116T>C rs886048367
NM_000256.3(MYBPC3):c.*212C>G rs2095874401
NM_000256.3(MYBPC3):c.-34T>A rs2095902050
NM_000256.3(MYBPC3):c.-5T>G rs886048383
NM_000256.3(MYBPC3):c.1167C>G (p.Asp389Glu) rs1292522713
NM_000256.3(MYBPC3):c.1219G>C (p.Gly407Arg) rs727505266
NM_000256.3(MYBPC3):c.1227-7C>T
NM_000256.3(MYBPC3):c.1234T>C (p.Phe412Leu) rs2095890795
NM_000256.3(MYBPC3):c.1238A>G (p.Glu413Gly) rs730880532
NM_000256.3(MYBPC3):c.1355C>A (p.Pro452His) rs730880536
NM_000256.3(MYBPC3):c.1386C>A (p.Asp462Glu) rs1213818614
NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp) rs201278114
NM_000256.3(MYBPC3):c.1543_1545del (p.Asn515del) rs730880643
NM_000256.3(MYBPC3):c.1624+13G>C rs397515913
NM_000256.3(MYBPC3):c.1720C>T (p.Arg574Trp) rs61897383
NM_000256.3(MYBPC3):c.1822C>G (p.Pro608Ala) rs730880552
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1919C>A (p.Pro640His)
NM_000256.3(MYBPC3):c.1930C>T (p.Pro644Ser) rs2095886536
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His) rs1800565
NM_000256.3(MYBPC3):c.1991G>T (p.Gly664Val) rs2095886397
NM_000256.3(MYBPC3):c.2063C>T (p.Thr688Met) rs3729946
NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser) rs771753579
NM_000256.3(MYBPC3):c.2149-5C>A rs36211722
NM_000256.3(MYBPC3):c.2198G>T (p.Arg733Leu) rs534345197
NM_000256.3(MYBPC3):c.2217G>A (p.Glu739=) rs786204348
NM_000256.3(MYBPC3):c.2246A>G (p.Tyr749Cys) rs1464769206
NM_000256.3(MYBPC3):c.2346C>T (p.Asn782=) rs768638405
NM_000256.3(MYBPC3):c.238G>A (p.Ala80Thr) rs730880700
NM_000256.3(MYBPC3):c.2527G>A (p.Glu843Lys) rs730880567
NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly) rs730880569
NM_000256.3(MYBPC3):c.2543C>T (p.Ala848Val) rs730880569
NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser) rs775890771
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.2708G>A (p.Gly903Asp) rs1007623141
NM_000256.3(MYBPC3):c.2788C>G (p.Leu930Val) rs1399854518
NM_000256.3(MYBPC3):c.2816G>C (p.Arg939Pro) rs946763177
NM_000256.3(MYBPC3):c.2901C>A (p.Ile967=) rs2095880876
NM_000256.3(MYBPC3):c.2994G>T (p.Gln998His)
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser) rs150786409
NM_000256.3(MYBPC3):c.3301A>G (p.Thr1101Ala) rs2095878980
NM_000256.3(MYBPC3):c.3326C>A (p.Thr1109Asn) rs397516016
NM_000256.3(MYBPC3):c.3340A>G (p.Thr1114Ala) rs1595841329
NM_000256.3(MYBPC3):c.3615G>C (p.Arg1205=) rs771292799
NM_000256.3(MYBPC3):c.3753T>C (p.Tyr1251=) rs397516039
NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr) rs397514751
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr) rs397516041
NM_000256.3(MYBPC3):c.39C>G (p.Ser13Arg) rs730880136
NM_000256.3(MYBPC3):c.592G>A (p.Asp198Asn) rs2095898499
NM_000256.3(MYBPC3):c.721G>A (p.Val241Met) rs886039000
NM_000256.3(MYBPC3):c.727A>C (p.Thr243Pro) rs730880625
NM_000256.3(MYBPC3):c.768C>A (p.Val256=) rs886048382
NM_000256.3(MYBPC3):c.821+6T>C rs2095895947
NM_000256.3(MYBPC3):c.932C>T (p.Ser311Leu) rs193922386
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) rs374326087

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