List of variants in gene CFTR reported as uncertain significance 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: 55

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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.220C>T (p.Arg74Trp)	rs115545701	0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)	rs11971167	0.00338
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	rs121909046	0.00335
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	rs1800073	0.00134
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)	rs1800110	0.00106
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)	rs143486492	0.00059
NM_000492.4(CFTR):c.601G>A (p.Val201Met)	rs138338446	0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His)	rs1800079	0.00045
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00041
NM_000492.4(CFTR):c.3469-17T>C	rs199630678	0.00041
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp)	rs142864834	0.00025
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys)	rs150691494	0.00019
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)	rs200735475	0.00016
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)	rs121909021	0.00015
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)	rs371107552	0.00012
NM_000492.4(CFTR):c.2657+2_2657+3insA	rs397508414	0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)	rs140502196	0.00009
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)	rs143456784	0.00008
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)	rs193922497	0.00007
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro)	rs150177304	0.00006
NM_000492.4(CFTR):c.355A>G (p.Ile119Val)	rs193922518	0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)	rs201958172	0.00004
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly)	rs145449046	0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)	rs373885282	0.00003
NM_000492.4(CFTR):c.697C>G (p.Leu233Val)	rs775713428	0.00003
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val)	rs749662161	0.00002
NM_000492.4(CFTR):c.4027G>A (p.Gly1343Ser)	rs747324955	0.00002
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)	rs367850319	0.00002
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)	rs754152822	0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)	rs397508375	0.00001
NM_000492.4(CFTR):c.273+4A>G	rs387906374	0.00001
NM_000492.4(CFTR):c.841A>G (p.Met281Val)	rs755215339	0.00001
NM_000492.4(CFTR):c.1126C>A (p.Gln376Lys)	rs1562892823
NM_000492.4(CFTR):c.1210-13_1210-10del	rs765376630
NM_000492.4(CFTR):c.1210-6del	rs1805177
NM_000492.4(CFTR):c.1291A>G (p.Ser431Gly)
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)	rs397508191
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)	rs79282516
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg)	rs1554384382
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly)	rs397508226
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu)	rs1800097
NM_000492.4(CFTR):c.1715A>G (p.Asp572Gly)	rs1792007322
NM_000492.4(CFTR):c.1928A>G (p.Lys643Arg)	rs1085307844
NM_000492.4(CFTR):c.2606T>G (p.Ile869Ser)
NM_000492.4(CFTR):c.2723C>G (p.Thr908Ser)	rs369521395
NM_000492.4(CFTR):c.2925A>G (p.Arg975=)
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)	rs1800120
NM_000492.4(CFTR):c.3485G>C (p.Arg1162Pro)	rs1800120
NM_000492.4(CFTR):c.3564_3590dup (p.Ser1196_His1197insGlnLysValMetIleIleGluAsnSer)
NM_000492.4(CFTR):c.361A>G (p.Ile121Val)	rs574654063
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val)	rs397508659
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)	rs113857788

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.