ClinVar Miner

List of variants studied for Hemolytic uremic syndrome, atypical, susceptibility to, 1 by Institute of Human Genetics, Cologne University

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Total variants: 4
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HGVS dbSNP gnomAD frequency
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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