List of variants in gene CFTR reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 39

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1210-11T>G	rs73715573	0.00886
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	rs1800098	0.00519
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
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.3415A>G (p.Ile1139Val)	rs397508556	0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	rs191456345	0.00011
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)	rs199791061	0.00008
NM_000492.4(CFTR):c.2657+5G>A	rs80224560	0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)	rs151048781	0.00006
NM_000492.4(CFTR):c.3874-4522A>G	rs895394181	0.00004
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)	rs77932196	0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)	rs121908805	0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000492.4(CFTR):c.1680-886A>G	rs397508266	0.00003
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter)	rs397508378	0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)	rs397508609	0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	rs397508783	0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)	rs75763344	0.00001
GRCh37/hg19 7q31.2(chr7:117246726-117251865)x1
NM_000492.3(CFTR):c.1210-12T[5]	rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)	rs397508139
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter)	rs397508183
NM_000492.4(CFTR):c.1766+1G>T	rs121908748
NM_000492.4(CFTR):c.1941T>A (p.Cys647Ter)
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)	rs121908746
NM_000492.4(CFTR):c.2215del (p.Val739fs)	rs397508353
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)	rs121908769
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)	rs121908751
NM_000492.4(CFTR):c.2909-15T>G	rs397508455
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs)	rs121908789
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter)	rs397508684
NM_000492.4(CFTR):c.50del (p.Phe17fs)	rs397508714

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