List of variants in gene CFTR reported as pathogenic 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.2988+1G>A	rs75096551	0.00030
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	rs77010898	0.00019
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	rs121908752	0.00013
NM_000492.4(CFTR):c.1766+1G>A	rs121908748	0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)	rs74767530	0.00004
NM_000492.4(CFTR):c.1680-886A>G	rs397508266	0.00003
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter)	rs79633941	0.00003
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)	rs79850223	0.00002
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)	rs74503330	0.00001
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)	rs74551128
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)	rs121908745
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)	rs77646904
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)	rs121908812
NM_000492.4(CFTR):c.2215del (p.Val739fs)	rs397508353
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)	rs121908769
NM_000492.4(CFTR):c.313del (p.Ile105fs)	rs121908801
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter)	rs79660178

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