ClinVar Miner

List of variants reported as likely benign for atypical hemolytic-uremic syndrome with B factor anomaly

Included ClinVar conditions (2):
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_001710.6(CFB):c.858C>T (p.Phe286=) rs117905900 0.00285
NM_001710.6(CFB):c.724A>C (p.Ile242Leu) rs144812066 0.00175
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) rs201798809 0.00019
NM_001710.6(CFB):c.221G>A (p.Arg74His) rs117314762 0.00019
NM_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
NM_001710.6(CFB):c.291G>A (p.Glu97=) rs138236643 0.00014
NM_000063.6(C2):c.1577A>G (p.Lys526Arg) rs146054348 0.00011
NM_001710.6(CFB):c.1838C>T (p.Thr613Ile) rs201754399 0.00007
NM_001710.6(CFB):c.784G>A (p.Val262Ile) rs200645483 0.00007
NM_001710.6(CFB):c.1778+8C>T rs148298609 0.00005
NM_001710.6(CFB):c.604C>T (p.Arg202Trp) rs537478097 0.00004
NM_001710.6(CFB):c.720G>A (p.Glu240=) rs753831049 0.00002

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