ClinVar Miner

List of variants in gene CFI reported as likely benign for atypical hemolytic-uremic syndrome with I factor anomaly

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_000204.5(CFI):c.1206C>T (p.Pro402=) rs115780371 0.00646
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu) rs61733901 0.00369
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00243
NM_000204.5(CFI):c.1443C>T (p.Val481=) rs114091883 0.00190
NM_000204.5(CFI):c.916A>G (p.Ile306Val) rs113273712 0.00164
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_000204.5(CFI):c.1657C>T (p.Pro553Ser) rs113460688 0.00134
NM_000204.5(CFI):c.319A>G (p.Thr107Ala) rs201419000 0.00036
NM_000204.5(CFI):c.429C>T (p.Ser143=) rs112492491 0.00034
NM_000204.5(CFI):c.1430-19G>A rs377117137 0.00019
NM_000204.5(CFI):c.1581C>T (p.Gly527=) rs181378677 0.00015
NM_000204.5(CFI):c.705T>C (p.Ile235=) rs373891906 0.00010
NM_000204.5(CFI):c.129C>T (p.Cys43=) rs146462954 0.00006
NM_000204.5(CFI):c.482+7G>A rs765922749 0.00006
NM_000204.5(CFI):c.1044+8C>T rs190420174 0.00005
NM_000204.5(CFI):c.57+4A>G rs757464411 0.00005
NM_000204.5(CFI):c.729T>A (p.Gly243=) rs749140698 0.00005
NM_000204.5(CFI):c.1429+8T>C rs184313022 0.00003
NM_000204.5(CFI):c.309C>T (p.Asn103=) rs761425840 0.00003
NM_000204.5(CFI):c.1378C>T (p.Leu460=) rs1026187949 0.00002
NM_000204.5(CFI):c.546A>G (p.Leu182=) rs992376160 0.00002
NM_000204.5(CFI):c.12T>A (p.Leu4=) rs777304665 0.00001
NM_000204.5(CFI):c.1656A>G (p.Lys552=) rs1308386684 0.00001
NM_000204.5(CFI):c.540A>G (p.Glu180=) rs759777516 0.00001
NM_000204.5(CFI):c.192G>C (p.Pro64=) rs571265769
NM_000204.5(CFI):c.329-14dup rs754551276

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