ClinVar Miner

List of variants studied for atypical hemolytic-uremic syndrome by Clinical Genomics Laboratory, Washington University in St. Louis

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00206
NM_003647.3(DGKE):c.235C>G (p.Gln79Glu) rs143468147 0.00046
NM_000064.4(C3):c.1645G>A (p.Asp549Asn)
NM_000186.4(CFH):c.3152C>T (p.Pro1051Leu)
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe) rs2149118712
NM_000361.3(THBD):c.670T>G (p.Cys224Gly)

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