ClinVar Miner

List of variants in gene CFHR5 reported as likely benign for atypical hemolytic-uremic syndrome

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser) rs12097550 0.01068
NM_030787.4(CFHR5):c.732C>T (p.Asn244=) rs41306229 0.00250
NM_030787.4(CFHR5):c.329T>C (p.Val110Ala) rs140691305 0.00003
NM_030787.4(CFHR5):c.1264C>G (p.Leu422Val)
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg) rs141321678
NM_030787.4(CFHR5):c.643T>C (p.Ser215Pro)
NM_030787.4(CFHR5):c.683G>C (p.Gly228Ala)

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