List of variants in gene CFTR reported as benign by GeneDx

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: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)	rs213950	0.56732
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)	rs1042077	0.44737
NM_000492.4(CFTR):c.1766+152T>A	rs4148711	0.43526
NM_000492.4(CFTR):c.4137-139G>A	rs4727855	0.25573
NM_000492.4(CFTR):c.1393-61A>G	rs34855237	0.25355
NM_000492.4(CFTR):c.274-179G>A	rs1429566	0.24654
NM_000492.4(CFTR):c.1767-136T>C	rs11978434	0.20764
NM_000492.4(CFTR):c.3368-140A>C	rs213981	0.19089
NM_000492.4(CFTR):c.3874-200G>A	rs214164	0.18968
NM_000492.4(CFTR):c.3469-65C>A	rs213989	0.18576
NM_000492.4(CFTR):c.2909-92G>A	rs35050470	0.16197
NM_000492.4(CFTR):c.4136+237C>T	rs4148724	0.14902
NM_000492.4(CFTR):c.580-159G>A	rs34159932	0.11983
NM_000492.4(CFTR):c.1680-124T>C	rs17140229	0.10133
NM_000492.4(CFTR):c.2619+106T>A	rs4148713	0.09566
NM_000492.4(CFTR):c.869+11C>T	rs1800503	0.07590
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)	rs1800130	0.07467
NM_000492.4(CFTR):c.2909-71G>C	rs34830471	0.03795
NM_000492.4(CFTR):c.3873+117T>G	rs10155917	0.03683
NM_000492.4(CFTR):c.743+40A>G	rs1800502	0.03675
NM_000492.4(CFTR):c.579+113C>T	rs73715571	0.02618
NM_000492.4(CFTR):c.870-168A>G	rs115770955	0.01774
NM_000492.4(CFTR):c.580-202G>C	rs17140095	0.01601
NM_000492.4(CFTR):c.*133del	rs145697705
NM_000492.4(CFTR):c.1210-34TG[10]	rs3832534
NM_000492.4(CFTR):c.1210-34TG[12]	rs3832534
NM_000492.4(CFTR):c.2619+86_2619+87del	rs4148712
NM_000492.4(CFTR):c.273+86T>C	rs17140013
NM_000492.4(CFTR):c.273+86T>G	rs17140013
NM_000492.4(CFTR):c.744-33GATT[6]	rs1805171
NM_000492.4(CFTR):c.869+233C>A	rs35071293

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.