ClinVar Miner

List of variants studied for atypical hemolytic uremic syndrome with complement gene abnormality by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_172351.3(CD46):c.198A>T (p.Lys66Asn) rs150429980 0.00033
NM_000064.4(C3):c.3023C>T (p.Ser1008Leu) rs746172422 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_172351.3(CD46):c.72G>A (p.Met24Ile) rs765047596 0.00002
NM_001710.6(CFB):c.503C>T (p.Pro168Leu) rs779024832 0.00001
NM_000064.4(C3):c.1402G>A (p.Gly468Arg) rs148820222
NM_000064.4(C3):c.75-1G>A
NM_172351.3(CD46):c.944-1G>C

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