ClinVar Miner

List of variants in gene combination CFTR, LOC111674475 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_000492.4(CFTR):c.1679+16T>C rs397508262 0.00013
NM_000492.4(CFTR):c.1679+18G>A rs369294289 0.00006
NM_000492.4(CFTR):c.1679+9C>G rs775440240 0.00004
NM_000492.4(CFTR):c.1585-19T>C rs778457306 0.00003
NM_000492.4(CFTR):c.1600G>T (p.Ala534Ser) rs1276867493 0.00003
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser) rs762224063 0.00003
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln) rs121909044 0.00003
NM_000492.4(CFTR):c.1585-7G>A rs1367201083 0.00001
NM_000492.4(CFTR):c.1587C>T (p.Asp529=) rs772895745 0.00001
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu) rs387906368 0.00001
NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu) rs148173473 0.00001
NM_000492.4(CFTR):c.1614T>A (p.Asn538Lys) rs1196851290 0.00001
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr) rs144745159 0.00001
NM_000492.4(CFTR):c.1618G>A (p.Val540Ile) rs187318937 0.00001
NM_000492.4(CFTR):c.1585-9T>C rs397508234
NM_000492.4(CFTR):c.1585G>A (p.Asp529Asn) rs397508235
NM_000492.4(CFTR):c.1586A>G (p.Asp529Gly) rs397508236
NM_000492.4(CFTR):c.1595A>G (p.Lys532Arg)
NM_000492.4(CFTR):c.1602A>G (p.Ala534=) rs1584810152
NM_000492.4(CFTR):c.1603G>A (p.Glu535Lys)
NM_000492.4(CFTR):c.1610A>G (p.Asp537Gly)
NM_000492.4(CFTR):c.1612A>C (p.Asn538His)
NM_000492.4(CFTR):c.1619T>C (p.Val540Ala)
NM_000492.4(CFTR):c.1625G>A (p.Gly542Glu)
NM_000492.4(CFTR):c.1634G>T (p.Gly545Val) rs1387755887
NM_000492.4(CFTR):c.1636A>C (p.Ile546Leu)
NM_000492.4(CFTR):c.1640C>G (p.Thr547Arg)
NM_000492.4(CFTR):c.1643_1644delinsCT (p.Leu548Pro)
NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly) rs74597325
NM_000492.4(CFTR):c.1661C>G (p.Ala554Gly)
NM_000492.4(CFTR):c.1666A>C (p.Ile556Leu)
NM_000492.4(CFTR):c.1669T>A (p.Ser557Thr)
NM_000492.4(CFTR):c.1675G>T (p.Ala559Ser) rs75549581
NM_000492.4(CFTR):c.1679+116G>T rs207468451
NM_000492.4(CFTR):c.1679+901C>T

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.