List of variants in gene CFI reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000204.5(CFI):c.804G>A (p.Ser268=)	rs2298749	0.30706
NM_000204.5(CFI):c.482+14T>A	rs76014294	0.01365
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.782G>A (p.Gly261Asp)	rs112534524	0.00153
NM_000204.5(CFI):c.905-3T>C	rs377535161	0.00014
NM_000204.5(CFI):c.192G>A (p.Pro64=)	rs571265769	0.00009
NM_000204.5(CFI):c.-13G>A	rs113612355
NM_000204.5(CFI):c.482+6C>T	rs79375065

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