ClinVar Miner

List of variants studied for atypical hemolytic-uremic syndrome by Mendelics

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_172351.3(CD46):c.1013C>T (p.Ala338Val) rs35366573 0.01505
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422 0.01362
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_000204.5(CFI):c.1217G>A (p.Arg406His) rs74817407 0.00599
NM_001710.6(CFB):c.724A>C (p.Ile242Leu) rs144812066 0.00175
NM_000064.4(C3):c.640C>T (p.Pro214Ser) rs794729228

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