ClinVar Miner

List of variants in gene CBLIF reported as likely benign for anemia

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
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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.1138G>A (p.Val380Ile) rs144070828 0.00082
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu) rs148081315 0.00066
NM_005142.3(CBLIF):c.1074-10T>C rs375549830 0.00027
NM_005142.3(CBLIF):c.964C>T (p.Leu322=) rs142491344 0.00019
NM_005142.3(CBLIF):c.256+10C>T rs369960390 0.00011
NM_005142.3(CBLIF):c.1074-3T>C rs370833765 0.00009
NM_005142.3(CBLIF):c.829G>C (p.Gly277Arg) rs138504371 0.00008
NM_005142.3(CBLIF):c.1221C>T (p.His407=) rs148989677 0.00003
NM_005142.3(CBLIF):c.1230C>T (p.Ile410=) rs150857406 0.00002
NM_005142.3(CBLIF):c.192C>T (p.Ala64=) rs1011636376 0.00001
NM_005142.3(CBLIF):c.1002T>C (p.Asn334=)
NM_005142.3(CBLIF):c.1035T>C (p.Val345=)
NM_005142.3(CBLIF):c.1074-10dup rs769669334
NM_005142.3(CBLIF):c.1092A>G (p.Thr364=)
NM_005142.3(CBLIF):c.1192+7G>A rs1417075488
NM_005142.3(CBLIF):c.138G>A (p.Ser46=) rs200472519
NM_005142.3(CBLIF):c.138G>T (p.Ser46=)
NM_005142.3(CBLIF):c.220C>T (p.Leu74Phe)
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.27G>A (p.Leu9=)
NM_005142.3(CBLIF):c.288C>A (p.Ile96=)
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+20G>A
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.468C>T (p.Arg156=)
NM_005142.3(CBLIF):c.512-17C>A
NM_005142.3(CBLIF):c.51G>A (p.Gly17=)
NM_005142.3(CBLIF):c.543C>A (p.Thr181=)
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.79+10_79+12del
NM_005142.3(CBLIF):c.79+11T>C
NM_005142.3(CBLIF):c.834G>A (p.Lys278=)
NM_005142.3(CBLIF):c.871+14C>G

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