ClinVar Miner

List of variants in gene CFTR reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.489+91A>G rs56094102 0.02063
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000492.4(CFTR):c.869+88T>A rs79718042 0.01498
NM_000492.4(CFTR):c.2620-180G>A rs10264892 0.01485
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_000492.4(CFTR):c.2988+238G>C rs78298983 0.01428
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_000492.4(CFTR):c.2908+107C>A rs34812579 0.00877
NM_000492.4(CFTR):c.743+145G>A rs184016368 0.00865
NM_000492.4(CFTR):c.1680-229A>C rs34412203 0.00751
NM_000492.4(CFTR):c.2908+138C>T rs149621568 0.00709
NM_000492.4(CFTR):c.1680-871A>G rs572658447 0.00636
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000492.4(CFTR):c.2490+197A>T rs34581373 0.00548
NM_000492.4(CFTR):c.1767-154A>G rs34364422 0.00546
NM_000492.4(CFTR):c.1585-9449C>A rs35135985 0.00537
NM_000492.4(CFTR):c.54-177T>A rs35920406 0.00493
NM_000492.4(CFTR):c.1581A>G (p.Glu527=) rs1800094 0.00491
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_000492.4(CFTR):c.1585-9395C>G rs77164005 0.00223
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000492.4(CFTR):c.1766+73T>G rs397508299 0.00036
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000492.4(CFTR):c.1584+12T>C rs193922502 0.00028
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00016
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000492.4(CFTR):c.2620-97C>T rs146376436 0.00011
NM_000492.4(CFTR):c.738G>A (p.Lys246=) rs35033453 0.00011
NM_000492.4(CFTR):c.3718-24G>A rs374013084 0.00009
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000492.4(CFTR):c.4224G>A (p.Leu1408=) rs1800134 0.00007
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00006
NM_000492.4(CFTR):c.3964-16T>C rs199672530 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 0.00006
NM_000492.4(CFTR):c.2475C>T (p.Asn825=) rs746961486 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_000492.4(CFTR):c.2052A>G (p.Lys684=) rs750642366 0.00004
NM_000492.4(CFTR):c.2832G>A (p.Val944=) rs193922512 0.00004
NM_000492.4(CFTR):c.1086T>C (p.Tyr362=) rs397508155 0.00003
NM_000492.4(CFTR):c.274-8T>C rs1186141962 0.00003
NM_000492.4(CFTR):c.4182T>C (p.Asp1394=) rs763937782 0.00003
NM_000492.4(CFTR):c.1050C>G (p.Val350=) rs1038437842 0.00002
NM_000492.4(CFTR):c.2262G>C (p.Val754=) rs1201012182 0.00002
NM_000492.4(CFTR):c.1209+7A>T rs767301152 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.1766+33C>A rs1462418106 0.00001
NM_000492.4(CFTR):c.2055A>G (p.Gln685=) rs1457520634 0.00001
NM_000492.4(CFTR):c.2766A>G (p.Val922=) rs762906556 0.00001
NM_000492.4(CFTR):c.3368-20C>T rs761144879 0.00001
NM_000492.4(CFTR):c.357C>T (p.Ile119=) rs1264742569 0.00001
NM_000492.4(CFTR):c.3591C>T (p.His1197=) rs1393226501 0.00001
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.4(CFTR):c.1116+32T>C rs138990074
NM_000492.4(CFTR):c.120C>T (p.Ile40=) rs376538363
NM_000492.4(CFTR):c.1210-3C>T
NM_000492.4(CFTR):c.1248T>C (p.Asn416=)
NM_000492.4(CFTR):c.1321C>T (p.Leu441=)
NM_000492.4(CFTR):c.1392+15C>G
NM_000492.4(CFTR):c.1467A>G (p.Ser489=) rs1799419729
NM_000492.4(CFTR):c.1584+53_1584+63dup rs397508232
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1758A>T (p.Ile586=) rs1462572352
NM_000492.4(CFTR):c.1767-9A>G rs1223678085
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.3718-15A>C
NM_000492.4(CFTR):c.3874-27TTC[2] rs397508623
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171
NM_000492.4(CFTR):c.960A>G (p.Leu320=) rs56093012

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.