List of variants reported as likely pathogenic for Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 43

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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.1853T>C (p.Ile618Thr)	rs139468767	0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)	rs121909021	0.00015
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile)	rs397508636	0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	rs141482808	0.00006
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly)	rs374453187	0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	rs144055758	0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)	rs758900656	0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)	rs79282516	0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)	rs121908758	0.00001
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln)	rs397508342	0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)	rs121909008	0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)	rs386134230	0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	rs397508464	0.00001
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)	rs397508488	0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)	rs186045772	0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)	rs397508609	0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)	rs121909043	0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	rs397508783	0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)	rs397508804	0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)	rs75763344	0.00001
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs)	rs1554391033
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu)	rs77932196
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter)	rs1554381605
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.1469del (p.Phe490fs)	rs775663783
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)	rs1800091
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile)	rs397508300
NM_000492.4(CFTR):c.179_180del (p.Glu60fs)	rs1584776308
NM_000492.4(CFTR):c.253G>T (p.Gly85Ter)	rs1584776437
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs)	rs1554390864
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)	rs397508498
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)	rs397508533
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)	rs397508535
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu)	rs1584822486
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter)	rs1584837090
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)	rs397508635
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)	rs1057516457
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)	rs750559671
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)	rs35516286

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.