ClinVar Miner

List of variants reported as risk factor for atypical hemolytic-uremic syndrome with I factor anomaly by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_000204.5(CFI):c.949C>T (p.Arg317Trp) rs121964917 0.00006
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter) rs121964913 0.00003
NM_000204.5(CFI):c.1555G>A (p.Asp519Asn) rs121964918 0.00001
NM_000204.5(CFI):c.1571A>T (p.Asp524Val) rs121964914
NM_000204.5(CFI):c.1637G>A (p.Trp546Ter) rs121964915

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