ClinVar Miner

List of variants reported as not provided for Hemolytic uremic syndrome, atypical, susceptibility to, 1

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_001701.4(BAAT):c.858C>G (p.Ser286=) rs80356746
NM_001701.4(BAAT):c.967A>G (p.Ile323Val) rs80356747

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