ClinVar Miner

List of variants in gene CFTR reported by PharmGKB

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) rs121908753
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1736A>C (p.Asp579Ala) rs397508288
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.3(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.349C>A (p.Arg117Ser) rs77834169
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723
NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330
NM_000492.3(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) rs80282562
NM_000492.3(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752

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.