ClinVar Miner

List of variants in gene CBLIF reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn) rs144916324 0.00148
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser) rs150926439 0.00089
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.1130C>T (p.Ala377Val) rs370902375 0.00020
NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro) rs146699265 0.00019
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.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.1055G>A (p.Arg352His) rs771992791 0.00006
NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr) rs760404861 0.00006
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.*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.239T>C (p.Met80Thr) rs376339959 0.00001
NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg) rs200856492 0.00001
NM_005142.3(CBLIF):c.1001A>T (p.Asn334Ile)
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.1074-14A>G rs541611142
NM_005142.3(CBLIF):c.1087A>G (p.Met363Val)
NM_005142.3(CBLIF):c.1108G>A (p.Val370Ile)
NM_005142.3(CBLIF):c.1129G>A (p.Ala377Thr)
NM_005142.3(CBLIF):c.1181del (p.Pro394fs) rs1565206584
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.20A>T (p.Tyr7Phe)
NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter) rs1565210437
NM_005142.3(CBLIF):c.271C>A (p.Gln91Lys)
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.371-4G>A
NM_005142.3(CBLIF):c.373C>T (p.Pro125Ser)
NM_005142.3(CBLIF):c.446C>A (p.Ala149Glu) rs781509423
NM_005142.3(CBLIF):c.47C>T (p.Ala16Val)
NM_005142.3(CBLIF):c.510A>T (p.Val170=)
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.62A>G (p.Gln21Arg)
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.834G>C (p.Lys278Asn) rs886048403
NM_005142.3(CBLIF):c.953T>C (p.Ile318Thr)
NM_005142.3(CBLIF):c.997A>G (p.Ile333Val)

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