ClinVar Miner

List of variants studied for atypical hemolytic-uremic syndrome by Baylor Genetics

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00206
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 0.00005
NM_002113.3(CFHR1):c.643G>A (p.Asp215Asn) rs781409951 0.00002
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000186.4(CFH):c.506A>G (p.His169Arg) rs768647508 0.00001
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) rs121909585
NM_000064.4(C3):c.4867G>T (p.Gly1623Trp)
NM_000204.5(CFI):c.227C>G (p.Ala76Gly) rs1010351654
NM_172351.3(CD46):c.558_559delinsCC (p.Val187Leu) rs1656184011

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