ClinVar Miner

List of variants in gene MYBPC3 reported as uncertain significance for MYBPC3-related disorder

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile) rs373519667 0.00017
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met) rs377163678 0.00015
NM_000256.3(MYBPC3):c.2011G>A (p.Val671Ile) rs876657869 0.00011
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln) rs727504378 0.00007
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623 0.00006
NM_000256.3(MYBPC3):c.752A>T (p.Asn251Ile) rs368588523 0.00006
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) rs11570060 0.00004
NM_000256.3(MYBPC3):c.1072G>A (p.Asp358Asn) rs746267533 0.00003
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) rs534345197 0.00003
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260 0.00003
NM_000256.3(MYBPC3):c.2562G>A (p.Met854Ile) rs730880572 0.00003
NM_000256.3(MYBPC3):c.2599A>G (p.Ile867Val) rs768339148 0.00003
NM_000256.3(MYBPC3):c.2908C>T (p.Arg970Trp) rs730880138 0.00003
NM_000256.3(MYBPC3):c.2171G>A (p.Arg724Gln) rs756102881 0.00002
NM_000256.3(MYBPC3):c.505G>A (p.Gly169Ser) rs886039212 0.00002
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn) rs369300885 0.00002
NC_000011.10:g.47341000T>G rs730880559 0.00001
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) rs397515884 0.00001
NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His) rs199741162 0.00001
NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser) rs727505266 0.00001
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln) rs776734314 0.00001
NM_000256.3(MYBPC3):c.1778C>T (p.Ser593Phe) rs397515924 0.00001
NM_000256.3(MYBPC3):c.3572C>T (p.Ser1191Leu) rs761545914 0.00001
NM_000256.3(MYBPC3):c.1696T>A (p.Cys566Ser) rs730880695
NM_000256.3(MYBPC3):c.1776G>A (p.Val592=) rs727503196
NM_000256.3(MYBPC3):c.2947A>G (p.Ile983Val)
NM_000256.3(MYBPC3):c.3017C>A (p.Thr1006Asn) rs778132423
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr) rs397516009

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