ClinVar Miner

List of variants in gene CBLIF studied for Hereditary intrinsic factor deficiency

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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) rs35211634 0.09596
NM_005142.3(CBLIF):c.246C>T (p.Ser82=) rs35792306 0.05846
NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser) rs35867471 0.02399
NM_005142.3(CBLIF):c.990C>T (p.Asn330=) rs2867802 0.00921
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) rs150884181 0.00810
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.371-19T>C rs139359211 0.00179
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn) rs144916324 0.00141
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.455C>T (p.Pro152Leu) rs148081315 0.00066
NM_005142.3(CBLIF):c.82G>A (p.Val28Ile) rs139090732 0.00066
NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg) rs139444835 0.00054
NM_005142.3(CBLIF):c.1064C>G (p.Pro355Arg) rs201871926 0.00045
NM_005142.3(CBLIF):c.1054C>T (p.Arg352Cys) rs143526872 0.00027
NM_005142.3(CBLIF):c.1074-10T>C rs375549830 0.00026
NM_005142.3(CBLIF):c.1129G>A (p.Ala377Thr) rs139918773 0.00023
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.997A>G (p.Ile333Val) rs146744565 0.00015
NM_005142.3(CBLIF):c.*87G>A rs575272147 0.00012
NM_005142.3(CBLIF):c.288C>A (p.Ile96=) rs375309032 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.512-17C>A rs148960211 0.00009
NM_005142.3(CBLIF):c.749C>T (p.Thr250Met) rs542431882 0.00009
NM_005142.3(CBLIF):c.1074-3T>C rs370833765 0.00008
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.373C>T (p.Pro125Ser) rs200473324 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.256+18C>T rs200909022 0.00006
NM_005142.3(CBLIF):c.370+13T>C rs367696324 0.00006
NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr) rs760404861 0.00006
NM_005142.3(CBLIF):c.1055G>A (p.Arg352His) rs771992791 0.00005
NM_005142.3(CBLIF):c.20A>T (p.Tyr7Phe) rs761457938 0.00005
NM_005142.3(CBLIF):c.693+8C>T rs199966806 0.00004
NM_005142.3(CBLIF):c.1108G>A (p.Val370Ile) rs199655061 0.00003
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.693+10T>G rs375893868 0.00003
NM_005142.3(CBLIF):c.854A>G (p.Gln285Arg) rs886048402 0.00003
NM_005142.3(CBLIF):c.1087A>G (p.Met363Val) rs760298108 0.00002
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.220C>T (p.Leu74Phe) rs577341460 0.00002
NM_005142.3(CBLIF):c.311G>A (p.Arg104Gln) rs150639344 0.00002
NM_005142.3(CBLIF):c.468C>T (p.Arg156=) rs370594493 0.00002
NM_005142.3(CBLIF):c.*56T>G rs886048401 0.00001
NM_005142.3(CBLIF):c.1001A>T (p.Asn334Ile) rs766004847 0.00001
NM_005142.3(CBLIF):c.1035T>C (p.Val345=) rs768295887 0.00001
NM_005142.3(CBLIF):c.1051C>G (p.Gln351Glu) rs893748423 0.00001
NM_005142.3(CBLIF):c.106G>A (p.Val36Ile) rs751628349 0.00001
NM_005142.3(CBLIF):c.1092A>G (p.Thr364=) rs752508653 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.256+20C>T rs1460973661 0.00001
NM_005142.3(CBLIF):c.257-13C>T rs756447151 0.00001
NM_005142.3(CBLIF):c.271C>A (p.Gln91Lys) rs1164085340 0.00001
NM_005142.3(CBLIF):c.27G>A (p.Leu9=) rs1198918035 0.00001
NM_005142.3(CBLIF):c.370+14G>A rs904825290 0.00001
NM_005142.3(CBLIF):c.371-4G>A rs571705827 0.00001
NM_005142.3(CBLIF):c.381T>G (p.Ala127=) rs1590860111 0.00001
NM_005142.3(CBLIF):c.438C>T (p.Asn146=) rs748409103 0.00001
NM_005142.3(CBLIF):c.446C>A (p.Ala149Glu) rs781509423 0.00001
NM_005142.3(CBLIF):c.47C>T (p.Ala16Val) rs1479570100 0.00001
NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg) rs200856492 0.00001
NM_005142.3(CBLIF):c.51G>A (p.Gly17=) rs772233552 0.00001
NM_005142.3(CBLIF):c.543C>A (p.Thr181=) rs1329142440 0.00001
NM_005142.3(CBLIF):c.62A>G (p.Gln21Arg) rs1866591879 0.00001
NM_005142.3(CBLIF):c.79+11T>C rs1449688934 0.00001
NM_005142.3(CBLIF):c.953T>C (p.Ile318Thr) rs777010766 0.00001
NC_000011.10:g.59845829T>A rs796064509
NC_000011.9:g.(?_59603261)_(59604844_?)dup
NM_005142.3(CBLIF):c.1002T>C (p.Asn334=) rs762614729
NM_005142.3(CBLIF):c.1067T>C (p.Met356Thr) rs771204721
NM_005142.3(CBLIF):c.1074-10dup rs769669334
NM_005142.3(CBLIF):c.1074-14A>G rs541611142
NM_005142.3(CBLIF):c.1169delinsCACAGCCGCTTTCCACACAGACATCATAACAAAAAATTTCCACCAAACCCCCCCCTCCCC (p.Ser390delinsThrGlnProLeuSerThrGlnThrSerTer)
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) rs2495717187
NM_005142.3(CBLIF):c.138G>A (p.Ser46=) rs200472519
NM_005142.3(CBLIF):c.138G>T (p.Ser46=) rs200472519
NM_005142.3(CBLIF):c.161del (p.Asn54fs) rs1590860794
NM_005142.3(CBLIF):c.183_186del (p.Met61fs) rs765896727
NM_005142.3(CBLIF):c.276C>T (p.Leu92=) rs761587396
NM_005142.3(CBLIF):c.310C>T (p.Arg104Ter) rs1866558759
NM_005142.3(CBLIF):c.331T>A (p.Ser111Thr) rs371476220
NM_005142.3(CBLIF):c.334A>C (p.Ile112Leu) rs756282016
NM_005142.3(CBLIF):c.346C>T (p.Gln116Ter) rs796064508
NM_005142.3(CBLIF):c.370+10G>T rs761350186
NM_005142.3(CBLIF):c.370+1G>C rs1213702908
NM_005142.3(CBLIF):c.370+20G>A rs2495713836
NM_005142.3(CBLIF):c.370+83_426del rs2495712049
NM_005142.3(CBLIF):c.395_396delinsAA (p.Phe132Ter)
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.510A>T (p.Val170=) rs1866545534
NM_005142.3(CBLIF):c.524T>C (p.Met175Thr) rs886048404
NM_005142.3(CBLIF):c.574G>A (p.Glu192Lys) rs1866524413
NM_005142.3(CBLIF):c.659T>C (p.Ile220Thr)
NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg) rs1590859406
NM_005142.3(CBLIF):c.67_68del (p.Gln23fs)
NM_005142.3(CBLIF):c.693+9G>A rs764280711
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=) rs2495720813
NM_005142.3(CBLIF):c.79+10_79+12del rs753116742
NM_005142.3(CBLIF):c.80-1G>A rs1590860877
NM_005142.3(CBLIF):c.813C>A (p.Ile271=)
NM_005142.3(CBLIF):c.834G>A (p.Lys278=) rs886048403
NM_005142.3(CBLIF):c.834G>C (p.Lys278Asn) rs886048403
NM_005142.3(CBLIF):c.871+14C>G rs769027647
NM_005142.3(CBLIF):c.903C>T (p.Asn301=)

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