ClinVar Miner

List of variants in gene MYBPC3 reported as likely benign for congenital heart disease

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952 0.00756
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00128
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973 0.00076
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met) rs199893357 0.00016
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422 0.00014
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054 0.00013
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400 0.00012
NM_000256.3(MYBPC3):c.648C>T (p.Ala216=) rs777418402 0.00009
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=) rs377579620 0.00006
NM_000256.3(MYBPC3):c.773-18T>C rs755484970 0.00006
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=) rs368918487 0.00004
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=) rs397515980 0.00004
NM_000256.3(MYBPC3):c.630C>T (p.His210=) rs762695516 0.00004
NM_000256.3(MYBPC3):c.639C>T (p.Tyr213=) rs727504858 0.00004
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met) rs776834755 0.00004
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831 0.00003
NM_000256.3(MYBPC3):c.1563C>T (p.Asp521=) rs367915627 0.00002
NM_000256.3(MYBPC3):c.1830C>T (p.Asp610=) rs768049705 0.00002
NM_000256.3(MYBPC3):c.1003C>T (p.Arg335Cys) rs730880630 0.00001
NM_000256.3(MYBPC3):c.1935C>T (p.Pro645=) rs727503193 0.00001
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215 0.00001
NM_000256.3(MYBPC3):c.681C>T (p.Thr227=) rs756894628 0.00001
NM_000256.3(MYBPC3):c.1521G>A (p.Gly507=) rs1235816440
NM_000256.3(MYBPC3):c.1578A>G (p.Ala526=) rs766721220
NM_000256.3(MYBPC3):c.1624+13G>A rs397515913
NM_000256.3(MYBPC3):c.2784G>A (p.Ser928=) rs372510974
NM_000256.3(MYBPC3):c.372C>A (p.Ala124=) rs11570046
NM_000256.3(MYBPC3):c.450C>G (p.Pro150=) rs377520770

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