ClinVar Miner

List of variants studied for hereditary intrinsic factor deficiency

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) rs35211634 0.09973
NM_005142.3(CBLIF):c.246C>T (p.Ser82=) rs35792306 0.05846
NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser) rs35867471 0.02593
NM_005142.3(CBLIF):c.990C>T (p.Asn330=) rs2867802 0.00921
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) rs150884181 0.00842
NM_005142.3(CBLIF):c.193G>A (p.Gly65Arg) rs11825834 0.00763
NM_005142.3(CBLIF):c.247G>A (p.Asp83Asn) rs115964827 0.00580
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn) rs144916324 0.00148
NM_005142.3(CBLIF):c.872-8C>A rs200571955 0.00138
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser) rs150926439 0.00089
NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile) rs144070828 0.00082
NM_005142.3(CBLIF):c.82G>A (p.Val28Ile) rs139090732 0.00068
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu) rs148081315 0.00066
NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg) rs139444835 0.00056
NM_005142.3(CBLIF):c.1064C>G (p.Pro355Arg) rs201871926 0.00045
NM_005142.3(CBLIF):c.1074-10T>C rs375549830 0.00027
NM_005142.3(CBLIF):c.1130C>T (p.Ala377Val) rs370902375 0.00020
NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro) rs146699265 0.00019
NM_005142.3(CBLIF):c.964C>T (p.Leu322=) rs142491344 0.00019
NM_005142.3(CBLIF):c.79+1G>A rs147785187 0.00017
NM_005142.3(CBLIF):c.*87G>A rs575272147 0.00012
NM_005142.3(CBLIF):c.79+3G>A rs146396839 0.00012
NM_005142.3(CBLIF):c.256+10C>T rs369960390 0.00011
NM_005142.3(CBLIF):c.750G>A (p.Thr250=) rs377432418 0.00011
NM_005142.3(CBLIF):c.1107C>T (p.Val369=) rs537424617 0.00010
NM_005142.3(CBLIF):c.1074-3T>C rs370833765 0.00009
NM_005142.3(CBLIF):c.1190A>T (p.Glu397Val) rs150005713 0.00008
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322 0.00008
NM_005142.3(CBLIF):c.829G>C (p.Gly277Arg) rs138504371 0.00008
NM_005142.3(CBLIF):c.59C>T (p.Thr20Ile) rs759872025 0.00007
NM_005142.3(CBLIF):c.1055G>A (p.Arg352His) rs771992791 0.00006
NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr) rs760404861 0.00006
NM_005142.3(CBLIF):c.1221C>T (p.His407=) rs148989677 0.00003
NM_005142.3(CBLIF):c.371-15C>T rs759810252 0.00003
NM_005142.3(CBLIF):c.854A>G (p.Gln285Arg) rs886048402 0.00003
NM_005142.3(CBLIF):c.1163T>C (p.Phe388Ser) rs767310648 0.00002
NM_005142.3(CBLIF):c.1230C>T (p.Ile410=) rs150857406 0.00002
NM_005142.3(CBLIF):c.*56T>G rs886048401 0.00001
NM_005142.3(CBLIF):c.1180C>T (p.Pro394Ser) rs766270119 0.00001
NM_005142.3(CBLIF):c.1211C>G (p.Pro404Arg) rs1460997213 0.00001
NM_005142.3(CBLIF):c.192C>T (p.Ala64=) rs1011636376 0.00001
NM_005142.3(CBLIF):c.239T>C (p.Met80Thr) rs376339959 0.00001
NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg) rs200856492 0.00001
NC_000011.9:g.(?_59603261)_(59604844_?)dup
NM_005142.2(CBLIF):c.-376A>T rs796064509
NM_005142.3(CBLIF):c.1001A>T (p.Asn334Ile)
NM_005142.3(CBLIF):c.1002T>C (p.Asn334=)
NM_005142.3(CBLIF):c.1035T>C (p.Val345=)
NM_005142.3(CBLIF):c.1051C>G (p.Gln351Glu)
NM_005142.3(CBLIF):c.1054C>T (p.Arg352Cys)
NM_005142.3(CBLIF):c.1067T>C (p.Met356Thr)
NM_005142.3(CBLIF):c.106G>A (p.Val36Ile)
NM_005142.3(CBLIF):c.1074-10dup rs769669334
NM_005142.3(CBLIF):c.1074-14A>G rs541611142
NM_005142.3(CBLIF):c.1087A>G (p.Met363Val)
NM_005142.3(CBLIF):c.1092A>G (p.Thr364=)
NM_005142.3(CBLIF):c.1108G>A (p.Val370Ile)
NM_005142.3(CBLIF):c.1129G>A (p.Ala377Thr)
NM_005142.3(CBLIF):c.1175dup (p.Thr393fs) rs1590854624
NM_005142.3(CBLIF):c.1181del (p.Pro394fs) rs1565206584
NM_005142.3(CBLIF):c.1192+7G>A rs1417075488
NM_005142.3(CBLIF):c.1221C>G (p.His407Gln) rs148989677
NM_005142.3(CBLIF):c.128T>C (p.Met43Thr)
NM_005142.3(CBLIF):c.138G>A (p.Ser46=) rs200472519
NM_005142.3(CBLIF):c.138G>T (p.Ser46=)
NM_005142.3(CBLIF):c.161del (p.Asn54fs) rs1590860794
NM_005142.3(CBLIF):c.183_186del (p.Met61fs) rs765896727
NM_005142.3(CBLIF):c.20A>T (p.Tyr7Phe)
NM_005142.3(CBLIF):c.220C>T (p.Leu74Phe)
NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter) rs1565210437
NM_005142.3(CBLIF):c.256+18C>T
NM_005142.3(CBLIF):c.256+20C>T
NM_005142.3(CBLIF):c.257-13C>T
NM_005142.3(CBLIF):c.271C>A (p.Gln91Lys)
NM_005142.3(CBLIF):c.27G>A (p.Leu9=)
NM_005142.3(CBLIF):c.288C>A (p.Ile96=)
NM_005142.3(CBLIF):c.310C>T (p.Arg104Ter)
NM_005142.3(CBLIF):c.311G>A (p.Arg104Gln)
NM_005142.3(CBLIF):c.331T>A (p.Ser111Thr)
NM_005142.3(CBLIF):c.334A>C (p.Ile112Leu)
NM_005142.3(CBLIF):c.346C>T (p.Gln116Ter) rs796064508
NM_005142.3(CBLIF):c.370+10G>T
NM_005142.3(CBLIF):c.370+13T>C
NM_005142.3(CBLIF):c.370+14G>A
NM_005142.3(CBLIF):c.370+1G>C
NM_005142.3(CBLIF):c.370+20G>A
NM_005142.3(CBLIF):c.370+83_426del
NM_005142.3(CBLIF):c.371-19T>C
NM_005142.3(CBLIF):c.371-4G>A
NM_005142.3(CBLIF):c.373C>T (p.Pro125Ser)
NM_005142.3(CBLIF):c.381T>G (p.Ala127=) rs1590860111
NM_005142.3(CBLIF):c.418T>C (p.Leu140=) rs141917734
NM_005142.3(CBLIF):c.432GAA[1] (p.Lys145del) rs770530971
NM_005142.3(CBLIF):c.438C>T (p.Asn146=)
NM_005142.3(CBLIF):c.446C>A (p.Ala149Glu) rs781509423
NM_005142.3(CBLIF):c.468C>T (p.Arg156=)
NM_005142.3(CBLIF):c.47C>T (p.Ala16Val)
NM_005142.3(CBLIF):c.510A>T (p.Val170=)
NM_005142.3(CBLIF):c.512-17C>A
NM_005142.3(CBLIF):c.51G>A (p.Gly17=)
NM_005142.3(CBLIF):c.524T>C (p.Met175Thr) rs886048404
NM_005142.3(CBLIF):c.543C>A (p.Thr181=)
NM_005142.3(CBLIF):c.574G>A (p.Glu192Lys) rs1866524413
NM_005142.3(CBLIF):c.62A>G (p.Gln21Arg)
NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg) rs1590859406
NM_005142.3(CBLIF):c.693+10T>G
NM_005142.3(CBLIF):c.693+8C>T
NM_005142.3(CBLIF):c.693+9G>A
NM_005142.3(CBLIF):c.749C>T (p.Thr250Met)
NM_005142.3(CBLIF):c.754A>T (p.Met252Leu) rs1866468089
NM_005142.3(CBLIF):c.778G>C (p.Gly260Arg) rs756139879
NM_005142.3(CBLIF):c.78C>T (p.Cys26=)
NM_005142.3(CBLIF):c.79+10_79+12del
NM_005142.3(CBLIF):c.79+11T>C
NM_005142.3(CBLIF):c.80-1G>A rs1590860877
NM_005142.3(CBLIF):c.834G>A (p.Lys278=)
NM_005142.3(CBLIF):c.834G>C (p.Lys278Asn) rs886048403
NM_005142.3(CBLIF):c.871+14C>G
NM_005142.3(CBLIF):c.953T>C (p.Ile318Thr)
NM_005142.3(CBLIF):c.997A>G (p.Ile333Val)

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