ClinVar Miner

List of variants in gene CBLIF reported as benign for anemia

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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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.872-8C>A rs200571955 0.00138
NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile) rs144070828 0.00082
NM_005142.3(CBLIF):c.750G>A (p.Thr250=) rs377432418 0.00011
NM_005142.3(CBLIF):c.59C>T (p.Thr20Ile) rs759872025 0.00007
NM_005142.3(CBLIF):c.371-19T>C

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