ClinVar Miner

List of variants reported as pathogenic for atypical hemolytic-uremic syndrome with I factor anomaly

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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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.1429+1G>C rs368555424 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000204.5(CFI):c.80_81del (p.Asp27fs) rs886043418 0.00003
NC_000001.11:g.196706898_196873196del
NM_000204.5(CFI):c.1149-1G>A
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) rs758049059
NM_000204.5(CFI):c.763_772+9delinsGTATCCAC rs2126214430
NM_000204.5(CFI):c.79del (p.Asp27fs)

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