ClinVar Miner

List of variants reported as likely pathogenic for atypical hemolytic-uremic syndrome with C3 anomaly

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 0.00005
NM_000064.4(C3):c.4534C>T (p.Arg1512Cys) rs1408701335 0.00001
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.2531A>G (p.Gln844Arg) rs1599510478
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000064.4(C3):c.3908G>A (p.Arg1303His) rs775015499
NM_000064.4(C3):c.640C>T (p.Pro214Ser) rs794729228
NM_000064.4(C3):c.75-1G>A

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