List of variants in gene CFI reported as benign for complement deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000204.5(CFI):c.941-49C>G	rs7441380	0.96948
NM_000204.5(CFI):c.772+61G>A	rs4382037	0.96727
NM_000204.5(CFI):c.884-63C>A	rs7437142	0.96722
NM_000204.5(CFI):c.*112C>T	rs551	0.94881
NM_000204.5(CFI):c.804G>A (p.Ser268=)	rs2298749	0.30706
NM_001375278.1(CFI):c.1558+1812A>G	rs28361433	0.03412
NM_000204.5(CFI):c.884-7T>C	rs140555685	0.01504
NM_000204.5(CFI):c.482+14T>A	rs76014294	0.01365
NM_000204.5(CFI):c.1534+5G>T	rs114013791	0.00951
NM_000204.5(CFI):c.*7G>T	rs80173133	0.00861
NM_000204.5(CFI):c.*144T>C	rs77449037	0.00857
NM_000204.5(CFI):c.1206C>T (p.Pro402=)	rs115780371	0.00646
NM_000204.5(CFI):c.315A>T (p.Thr105=)	rs61745205	0.00608
NM_000204.5(CFI):c.1217G>A (p.Arg406His)	rs74817407	0.00599
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg)	rs41278047	0.00243
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)	rs7437875	0.00206
NM_000204.5(CFI):c.1443C>T (p.Val481=)	rs114091883	0.00190
NM_000204.5(CFI):c.319A>G (p.Thr107Ala)	rs201419000	0.00036
NM_000204.5(CFI):c.719C>G (p.Ala240Gly)	rs146444258	0.00024
NM_000204.5(CFI):c.1581C>T (p.Gly527=)	rs181378677	0.00015
NM_000204.5(CFI):c.608C>T (p.Thr203Ile)	rs138346388	0.00015
NM_000204.5(CFI):c.405T>C (p.Asp135=)	rs375792874	0.00010
NM_000204.5(CFI):c.1410T>C (p.Ser470=)	rs200068862	0.00009
NM_000204.5(CFI):c.560G>A (p.Arg187Gln)	rs143366614	0.00007
NM_000204.5(CFI):c.1044+8C>T	rs190420174	0.00005
NM_000204.5(CFI):c.603A>C (p.Arg201Ser)	rs145769028	0.00004
NM_000204.5(CFI):c.1429+8T>C	rs184313022	0.00003
NM_000204.5(CFI):c.-13G>A	rs113612355
NM_000204.5(CFI):c.482+6C>A	rs79375065
NM_000204.5(CFI):c.482+6C>T	rs79375065

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