ClinVar Miner

List of variants in gene CFTR reported as uncertain significance by Johns Hopkins Genomics, Johns Hopkins University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.53+324A>G rs78171410 0.00590
NM_000492.4(CFTR):c.53+8298C>G rs35616800 0.00361
NM_000492.4(CFTR):c.3718-3630G>T rs142677818 0.00117
NM_000492.4(CFTR):c.3717+5793G>T rs567468206 0.00061
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_000492.4(CFTR):c.2620-583C>T rs781023677 0.00038
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp) rs142864834 0.00025
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln) rs142540482 0.00022
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser) rs145900055 0.00019
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552 0.00012
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) rs149353983 0.00010
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603 0.00009
NM_000492.4(CFTR):c.1584+4119C>T rs983323581 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.1584+3292A>G rs147176173 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys) rs112162204 0.00006
NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg) rs200899224 0.00004
NM_000492.4(CFTR):c.1585-2061G>C rs187146610 0.00004
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu) rs775701644 0.00004
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.2392C>T (p.Pro798Ser) rs138069616 0.00003
NM_000492.4(CFTR):c.697C>G (p.Leu233Val) rs775713428 0.00003
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys) rs367850319 0.00002
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu) rs759726535 0.00002
NM_000492.4(CFTR):c.1137A>C (p.Glu379Asp) rs774308232 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly) rs377447726 0.00001
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys) rs397508418 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.273+4A>G rs387906374 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.3925C>G (p.Gln1309Glu) rs193922732 0.00001
NM_000492.4(CFTR):c.4037T>A (p.Leu1346Gln) rs1313341594 0.00001
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu) rs397508673 0.00001
NM_000492.4(CFTR):c.4186A>C (p.Thr1396Pro) rs375552160 0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692 0.00001
NM_000492.4(CFTR):c.1117-220_1117-4del rs2115881246
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.1209+568A>G
NM_000492.4(CFTR):c.1392+1498G>A
NM_000492.4(CFTR):c.1393-2042A>G
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg) rs1554384382
NM_000492.4(CFTR):c.1490T>G (p.Ile497Ser) rs1799421098
NM_000492.4(CFTR):c.1495C>G (p.Pro499Ala) rs397508219
NM_000492.4(CFTR):c.1584+10206A>G
NM_000492.4(CFTR):c.1584+12309T>C
NM_000492.4(CFTR):c.1584+6457A>C
NM_000492.4(CFTR):c.1585-11006A>G
NM_000492.4(CFTR):c.1585-2211A>T
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe) rs397508275
NM_000492.4(CFTR):c.1842C>A (p.Asp614Glu)
NM_000492.4(CFTR):c.205C>A (p.Leu69Ile) rs372421038
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu) rs1800076
NM_000492.4(CFTR):c.2490+1083C>T
NM_000492.4(CFTR):c.2663C>A (p.Pro888His)
NM_000492.4(CFTR):c.273+8304C>T
NM_000492.4(CFTR):c.2734T>A (p.Ser912Thr) rs1554390984
NM_000492.4(CFTR):c.274-1407T>G
NM_000492.4(CFTR):c.274-8043A>G
NM_000492.4(CFTR):c.2906C>T (p.Ala969Val) rs936934088
NM_000492.4(CFTR):c.2963C>T (p.Pro988Leu) rs1792306616
NM_000492.4(CFTR):c.3460G>A (p.Asp1154Asn) rs397508568
NM_000492.4(CFTR):c.3468+3566G>A
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu) rs765133036
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser) rs397508593
NM_000492.4(CFTR):c.3717+6029A>G
NM_000492.4(CFTR):c.3718-3598C>T rs2116156664
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val) rs1554395370
NM_000492.4(CFTR):c.3874-3828G>T
NM_000492.4(CFTR):c.3874-3854C>G
NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu) rs397508666
NM_000492.4(CFTR):c.4103T>C (p.Leu1368Pro)
NM_000492.4(CFTR):c.498G>C (p.Lys166Asn) rs2116674891
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.4(CFTR):c.54-9347T>A
NM_000492.4(CFTR):c.575A>T (p.Asp192Val) rs397508758
NM_000492.4(CFTR):c.598T>G (p.Phe200Val) rs397508766
NM_000492.4(CFTR):c.697C>T (p.Leu233Phe) rs775713428
NM_000492.4(CFTR):c.838G>A (p.Ala280Thr)
NM_000492.4(CFTR):c.870-682_870-350del

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.