ClinVar Miner

List of variants studied for atypical hemolytic-uremic syndrome by Institute of Human Genetics, Cologne University

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000064.4(C3):c.3537C>A (p.Asn1179Lys) rs1918021723
NM_000186.4(CFH):c.1616G>T (p.Gly539Val) rs1027258331
NM_000186.4(CFH):c.2397del (p.Glu800fs) rs1131690796
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.4(CFH):c.2975T>G (p.Leu992Ter)

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