ClinVar Miner

List of variants in gene CFHR5 reported as uncertain significance for atypical hemolytic-uremic syndrome

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr) rs138834145 0.00009
NM_030787.4(CFHR5):c.707A>G (p.Asp236Gly) rs1283689984 0.00001
NM_030787.4(CFHR5):c.1106T>G (p.Val369Gly)
NM_030787.4(CFHR5):c.1214T>A (p.Val405Glu)
NM_030787.4(CFHR5):c.647A>T (p.Asn216Ile) rs147488267

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