List of variants in gene CFI reported as likely pathogenic for immune system disorder

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000204.5(CFI):c.772G>A (p.Ala258Thr)	rs199688124	0.00014
NM_000204.5(CFI):c.1019T>C (p.Ile340Thr)	rs769419740	0.00007
NM_000204.5(CFI):c.310G>A (p.Gly104Arg)	rs200419722	0.00006
NM_000204.5(CFI):c.1429+1G>C	rs368555424	0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter)	rs368615806	0.00004
NM_000204.5(CFI):c.1071T>G (p.Ile357Met)	rs200881135	0.00003
NM_000204.5(CFI):c.1165C>T (p.Arg389Cys)	rs1292929833	0.00001
NM_000204.5(CFI):c.1006C>T (p.Arg336Ter)	rs759676430
NM_000204.5(CFI):c.1118G>C (p.Cys373Ser)	rs1579173999
NM_000204.5(CFI):c.1169dup (p.Tyr390Ter)
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter)	rs752671716
NM_000204.5(CFI):c.1487C>T (p.Ser496Phe)
NM_000204.5(CFI):c.1571A>G (p.Asp524Gly)
NM_000204.5(CFI):c.1576G>T (p.Gly526Ter)
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter)	rs2126178088
NM_000204.5(CFI):c.658+1G>A

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