List of variants in gene combination CFTR, LOC111674477 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 32

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.4243-5C>T	rs114402068	0.00138
NM_000492.4(CFTR):c.4243-20A>G	rs138025486	0.00086
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)	rs148783445	0.00074
NM_000492.4(CFTR):c.*2G>A	rs150914702	0.00056
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)	rs4148725	0.00009
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)	rs761669740	0.00006
NM_000492.4(CFTR):c.4261G>T (p.Val1421Leu)	rs578237673	0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000492.4(CFTR):c.4243-2A>G	rs397508705	0.00001
NM_000492.4(CFTR):c.4252del (p.Glu1418fs)	rs1554397750	0.00001
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)	rs397508708	0.00001
NM_000492.4(CFTR):c.4277C>T (p.Ser1426Phe)	rs762847468	0.00001
NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys)	rs750559671	0.00001
NM_000492.4(CFTR):c.4312C>T (p.Arg1438Trp)	rs397508711	0.00001
NM_000492.4(CFTR):c.4313G>A (p.Arg1438Gln)	rs975983947	0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)	rs121909043	0.00001
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys)	rs1325117166	0.00001
NM_000492.4(CFTR):c.4243-16A>G	rs780125251
NM_000492.4(CFTR):c.4243-35del	rs193922527
NM_000492.4(CFTR):c.4251del (p.Glu1418fs)	rs397508706
NM_000492.4(CFTR):c.4262T>A (p.Val1421Glu)
NM_000492.4(CFTR):c.4264C>T (p.Arg1422Trp)	rs373172017
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)	rs1800135
NM_000492.4(CFTR):c.4273G>A (p.Asp1425Asn)	rs867990936
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr)	rs762847468
NM_000492.4(CFTR):c.4280T>C (p.Ile1427Thr)	rs193922528
NM_000492.4(CFTR):c.4293G>A (p.Leu1431=)	rs1562929564
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)	rs750559671
NM_000492.4(CFTR):c.4307_4320del (p.Leu1436fs)	rs1562929573
NM_000492.4(CFTR):c.4408G>T (p.Glu1470Ter)
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter)	rs397508716
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg)	rs753173837

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.