ClinVar Miner

List of variants reported as likely pathogenic for Hemolytic uremic syndrome, atypical, susceptibility to, 1

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.3616C>T (p.Arg1206Cys) rs1573087364 0.00001
NM_000186.4(CFH):c.1154G>T (p.Cys385Phe)
NM_000186.4(CFH):c.1343G>A (p.Cys448Tyr)
NM_000186.4(CFH):c.1520-2A>G
NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)
NM_000186.4(CFH):c.2609G>A (p.Cys870Tyr)
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.4(CFH):c.2975T>G (p.Leu992Ter)
NM_000186.4(CFH):c.3472dup (p.Ser1158fs)
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser) rs1573087200
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe) rs2149118712
NM_000186.4(CFH):c.3644G>A (p.Arg1215Gln)
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000186.4(CFH):c.592T>C (p.Trp198Arg)
NM_003647.3(DGKE):c.942C>G (p.Asn314Lys) rs749415630
NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs) rs869312973

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