List of variants in gene CFTR reported as pathogenic for not specified

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: 53

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	rs77010898	0.00019
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)	rs397508276	0.00010
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	rs121909011	0.00009
NM_000492.4(CFTR):c.2657+5G>A	rs80224560	0.00006
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.579+1G>T	rs77188391	0.00004
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)	rs77932196	0.00003
NM_000492.4(CFTR):c.1680-886A>G	rs397508266	0.00003
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter)	rs79031340	0.00002
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)	rs77409459	0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)	rs397508296	0.00001
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)	rs121908760	0.00001
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter)	rs397508393	0.00001
NM_000492.4(CFTR):c.273+1G>A	rs121908791	0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)	rs386134230	0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)	rs397508461	0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	rs397508464	0.00001
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter)	rs121908765	0.00001
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)	rs74503330	0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)	rs121909015	0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	rs397508783	0.00001
NM_000492.3(CFTR):c.1210-12T[5]	rs1805177
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)	rs746418935
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)	rs387906360
NM_000492.4(CFTR):c.1117-1G>A	rs797045160
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)	rs397508168
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)	rs397508173
NM_000492.4(CFTR):c.1210-2A>C	rs397508179
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs)	rs3034796
NM_000492.4(CFTR):c.1340del (p.Lys447fs)	rs397508192
NM_000492.4(CFTR):c.1393-1G>A	rs397508200
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.1766+1G>C	rs121908748
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs)	rs121908779
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs)	rs397508325
NM_000492.4(CFTR):c.2052del (p.Lys684fs)	rs121908746
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)	rs145449046
NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter)	rs377447726
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)	rs121908769
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)	rs397508412
NM_000492.4(CFTR):c.2875del (p.Ala959fs)	rs397508447
NM_000492.4(CFTR):c.303dup (p.Leu102fs)	rs397508486
NM_000492.4(CFTR):c.328G>C (p.Asp110His)	rs113993958
NM_000492.4(CFTR):c.3368-2A>G	rs755416052
NM_000492.4(CFTR):c.3717+1G>A	rs750558115
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter)	rs76649725
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)	rs397508658
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)	rs397508675
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)	rs397508775
NM_000492.4(CFTR):c.708del (p.Gln237fs)	rs1299250440
NM_000492.4(CFTR):c.861_865del (p.Asn287fs)	rs397508805

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.