List of variants reported as likely pathogenic for Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 by Fulgent Genetics, Fulgent Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)	rs757785149	0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)	rs460184	0.00001
NM_000186.4(CFH):c.1337-2A>G
NM_000186.4(CFH):c.139del (p.Gln47fs)
NM_000186.4(CFH):c.1673G>A (p.Trp558Ter)
NM_000186.4(CFH):c.213G>A (p.Trp71Ter)	rs1210674261
NM_000186.4(CFH):c.2236+1G>C
NM_000186.4(CFH):c.2575C>T (p.Gln859Ter)
NM_000186.4(CFH):c.2602dup (p.Ile868fs)	rs2149113459
NM_000186.4(CFH):c.336T>A (p.Tyr112Ter)
NM_000186.4(CFH):c.3643C>T (p.Arg1215Ter)	rs121913051
NM_000186.4(CFH):c.39G>A (p.Trp13Ter)
NM_000186.4(CFH):c.620-2A>G

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