List of variants reported as likely pathogenic for Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000204.5(CFI):c.772G>A (p.Ala258Thr)	rs199688124	0.00013
NM_000204.5(CFI):c.1019T>C (p.Ile340Thr)	rs769419740	0.00007
NM_000204.5(CFI):c.148C>G (p.Pro50Ala)	rs144082872	0.00006
NM_000204.5(CFI):c.1025G>A (p.Gly342Glu)	rs1312234258	0.00001
NM_000204.5(CFI):c.1300del (p.Glu434fs)	rs757053954	0.00001
NM_000204.5(CFI):c.1A>G (p.Met1Val)	rs770655669	0.00001
NM_000204.5(CFI):c.1122_1123insT (p.Ile375fs)
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter)	rs752671716
NM_000204.5(CFI):c.1326dup (p.Asp443fs)
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter)	rs2126178088
NM_000204.5(CFI):c.413del (p.Met138fs)
NM_000204.5(CFI):c.57+1G>A
NM_000204.5(CFI):c.57+1G>C	rs1425827135
NM_000204.5(CFI):c.748C>T (p.Gln250Ter)
NM_000204.5(CFI):c.764G>A (p.Cys255Tyr)
NM_000204.5(CFI):c.772+1G>T
NM_000204.5(CFI):c.773-1G>A
NM_000204.5(CFI):c.905-1G>C

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