ClinVar Miner

List of variants in gene C8B reported as uncertain significance for Inborn genetic diseases

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000066.4(C8B):c.1268T>C (p.Leu423Ser) rs370269698 0.00017
NM_000066.4(C8B):c.1616G>A (p.Arg539Gln) rs530148306 0.00017
NM_000066.4(C8B):c.1492A>G (p.Lys498Glu) rs200245622 0.00013
NM_000066.4(C8B):c.353G>A (p.Ser118Asn) rs149147808 0.00012
NM_000066.4(C8B):c.833A>G (p.Tyr278Cys) rs367587572 0.00012
NM_000066.4(C8B):c.407G>A (p.Arg136His) rs200374059 0.00011
NM_000066.4(C8B):c.161G>A (p.Arg54Gln) rs772116036 0.00008
NM_000066.4(C8B):c.371G>C (p.Gly124Ala) rs888935609 0.00007
NM_000066.4(C8B):c.1157G>A (p.Gly386Asp) rs373307501 0.00005
NM_000066.4(C8B):c.1405C>T (p.Pro469Ser) rs142870813 0.00005
NM_000066.4(C8B):c.444C>G (p.Asp148Glu) rs151302643 0.00005
NM_000066.4(C8B):c.1442A>G (p.Tyr481Cys) rs373866445 0.00004
NM_000066.4(C8B):c.318A>C (p.Glu106Asp) rs373375237 0.00004
NM_000066.4(C8B):c.406C>T (p.Arg136Cys) rs376708486 0.00004
NM_000066.4(C8B):c.466A>G (p.Arg156Gly) rs747315203 0.00004
NM_000066.4(C8B):c.887G>A (p.Arg296His) rs781743688 0.00004
NM_000066.4(C8B):c.1283G>A (p.Arg428Gln) rs199592536 0.00003
NM_000066.4(C8B):c.1558C>T (p.Arg520Cys) rs778114966 0.00003
NM_000066.4(C8B):c.1615C>T (p.Arg539Trp) rs773136580 0.00003
NM_000066.4(C8B):c.296C>T (p.Pro99Leu) rs747849141 0.00003
NM_000066.4(C8B):c.523C>G (p.Leu175Val) rs377140731 0.00003
NM_000066.4(C8B):c.895C>T (p.Leu299Phe) rs374138669 0.00003
NM_000066.4(C8B):c.515T>C (p.Ile172Thr) rs200647490 0.00002
NM_000066.4(C8B):c.878T>C (p.Leu293Pro) rs781075590 0.00002
NM_000066.4(C8B):c.911A>G (p.Tyr304Cys) rs1374819900 0.00002
NM_000066.4(C8B):c.1031A>C (p.Tyr344Ser) rs773539697 0.00001
NM_000066.4(C8B):c.1142A>G (p.Asn381Ser) rs1457397105 0.00001
NM_000066.4(C8B):c.1265A>C (p.Asp422Ala) rs1434285462 0.00001
NM_000066.4(C8B):c.1331C>T (p.Pro444Leu) rs371378397 0.00001
NM_000066.4(C8B):c.1364C>T (p.Ala455Val) rs41285942 0.00001
NM_000066.4(C8B):c.1375A>C (p.Asn459His) rs750536393 0.00001
NM_000066.4(C8B):c.1438G>A (p.Ala480Thr) rs924523629 0.00001
NM_000066.4(C8B):c.377T>C (p.Val126Ala) rs778583924 0.00001
NM_000066.4(C8B):c.61G>A (p.Ala21Thr) rs1233092970 0.00001
NM_000066.4(C8B):c.1045G>T (p.Val349Leu)
NM_000066.4(C8B):c.1127A>G (p.His376Arg)
NM_000066.4(C8B):c.1133G>C (p.Cys378Ser) rs1644901125
NM_000066.4(C8B):c.1180G>A (p.Val394Ile) rs375765321
NM_000066.4(C8B):c.1296T>A (p.Ser432Arg)
NM_000066.4(C8B):c.1337C>T (p.Ala446Val)
NM_000066.4(C8B):c.1464C>A (p.Asn488Lys)
NM_000066.4(C8B):c.1628C>A (p.Pro543His) rs746509547
NM_000066.4(C8B):c.1664C>G (p.Ser555Cys)
NM_000066.4(C8B):c.1715C>G (p.Pro572Arg)
NM_000066.4(C8B):c.1767C>A (p.Asp589Glu) rs752783592
NM_000066.4(C8B):c.1767C>G (p.Asp589Glu) rs752783592
NM_000066.4(C8B):c.198G>C (p.Glu66Asp)
NM_000066.4(C8B):c.242A>G (p.Lys81Arg)
NM_000066.4(C8B):c.269T>C (p.Leu90Pro)
NM_000066.4(C8B):c.350G>A (p.Gly117Glu) rs2522781920
NM_000066.4(C8B):c.370G>A (p.Gly124Ser) rs2522781776
NM_000066.4(C8B):c.375T>G (p.Phe125Leu) rs2522781743
NM_000066.4(C8B):c.524T>C (p.Leu175Pro) rs2522772429
NM_000066.4(C8B):c.587A>G (p.Tyr196Cys) rs1645030928
NM_000066.4(C8B):c.659C>A (p.Thr220Lys) rs374321085
NM_000066.4(C8B):c.869G>C (p.Ser290Thr) rs372123388
NM_000066.4(C8B):c.886C>T (p.Arg296Cys) rs147180727
NM_000066.4(C8B):c.991G>A (p.Gly331Arg)

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