ClinVar Miner

List of variants in gene CFTR reported as uncertain significance by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_000492.3(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1135G>A (p.Glu379Lys) rs397508165
NM_000492.3(CFTR):c.1317T>G (p.Pro439=) rs1562895052
NM_000492.3(CFTR):c.1499G>A (p.Gly500Asp) rs774945680
NM_000492.3(CFTR):c.1548A>T (p.Arg516Ser) rs1562898492
NM_000492.3(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1841A>G (p.Asp614Gly) rs201124247
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.2057C>A (p.Ser686Tyr) rs201444561
NM_000492.3(CFTR):c.2252G>A (p.Arg751His) rs397508357
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.2375G>A (p.Arg792Gln) rs369040061
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.2706C>G (p.Ser902Arg) rs397508422
NM_000492.3(CFTR):c.274-6T>C rs371315549
NM_000492.3(CFTR):c.319G>C (p.Ala107Pro) rs1562889219
NM_000492.3(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.3(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994
NM_000492.3(CFTR):c.3607A>G (p.Ile1203Val) rs75647395
NM_000492.3(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040
NM_000492.3(CFTR):c.3794G>T (p.Gly1265Val) rs1554395370
NM_000492.3(CFTR):c.3874-8T>A rs397508625
NM_000492.3(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.3(CFTR):c.4061T>G (p.Met1354Arg) rs755993775
NM_000492.3(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.449T>G (p.Met150Arg) rs1562889397
NM_000492.3(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.3(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.3(CFTR):c.488A>C (p.Lys163Thr) rs1562889435
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.503C>T (p.Ser168Leu) rs869249241
NM_000492.3(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.3(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000492.3(CFTR):c.676G>C (p.Gly226Arg) rs1562890588
NM_000492.3(CFTR):c.701C>A (p.Ala234Asp) rs769016520
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.3(CFTR):c.960A>T (p.Leu320Phe) rs56093012
NM_000492.3(CFTR):c.992T>A (p.Ile331Asn) rs397508825

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.