ClinVar Miner

List of variants reported as likely benign for atypical hemolytic-uremic syndrome with MCP/CD46 anomaly

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_172351.3(CD46):c.796G>A (p.Asp266Asn) rs17006830 0.00369
NM_172351.3(CD46):c.861G>A (p.Ser287=) rs17006843 0.00368
NM_172351.3(CD46):c.-11C>A rs74477032 0.00262
NM_172351.3(CD46):c.926C>T (p.Pro309Leu) rs41317833 0.00241
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) rs146803767 0.00093
NM_172351.3(CD46):c.261A>G (p.Leu87=) rs115385712 0.00008
NM_172351.3(CD46):c.286+27del rs371729129

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