ClinVar Miner

List of variants in gene CFTR reported as uncertain significance by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 225
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HGVS dbSNP
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1019T>A (p.Ile340Asn) rs1554381352
NM_000492.3(CFTR):c.1039C>T (p.Arg347Cys) rs397508147
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1052C>T (p.Thr351Ile) rs1800086
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1076A>G (p.Gln359Arg)
NM_000492.3(CFTR):c.1163C>T (p.Thr388Met) rs143860237
NM_000492.3(CFTR):c.1177G>C (p.Val393Leu) rs1562892874
NM_000492.3(CFTR):c.1187A>C (p.Asn396Thr) rs1396443734
NM_000492.3(CFTR):c.1196C>T (p.Ala399Val) rs146463120
NM_000492.3(CFTR):c.1209+12T>A rs748021847
NM_000492.3(CFTR):c.1209+18A>C rs193922499
NM_000492.3(CFTR):c.1209+6A>G rs749054857
NM_000492.3(CFTR):c.1210G>C (p.Gly404Arg) rs200899224
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.125C>T (p.Ser42Phe) rs143456784
NM_000492.3(CFTR):c.1307T>C (p.Leu436Pro) rs1554382639
NM_000492.3(CFTR):c.1343T>C (p.Ile448Thr) rs748642635
NM_000492.3(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.3(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.3(CFTR):c.1394C>A (p.Thr465Asn) rs758900656
NM_000492.3(CFTR):c.1429C>T (p.Pro477Ser) rs139054556
NM_000492.3(CFTR):c.1430C>T (p.Pro477Leu) rs886044297
NM_000492.3(CFTR):c.1450C>T (p.His484Tyr) rs397508210
NM_000492.3(CFTR):c.1454G>C (p.Ser485Thr) rs143980575
NM_000492.3(CFTR):c.1492A>G (p.Met498Val) rs1562898400
NM_000492.3(CFTR):c.1495C>T (p.Pro499Ser) rs397508219
NM_000492.3(CFTR):c.149C>A (p.Ser50Tyr) rs397508220
NM_000492.3(CFTR):c.1544A>G (p.Tyr515Cys) rs1554384431
NM_000492.3(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.3(CFTR):c.1571G>A (p.Cys524Tyr) rs1554384440
NM_000492.3(CFTR):c.1583A>G (p.Glu528Gly) rs1562898548
NM_000492.3(CFTR):c.1584+12T>C rs193922502
NM_000492.3(CFTR):c.1680-13A>G rs757981933
NM_000492.3(CFTR):c.1680-877G>A rs397508261
NM_000492.3(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.3(CFTR):c.1731C>T (p.Tyr577=) rs55928397
NM_000492.3(CFTR):c.1745C>T (p.Thr582Ile) rs397508293
NM_000492.3(CFTR):c.1783A>G (p.Met595Val) rs750140050
NM_000492.3(CFTR):c.1934T>A (p.Met645Lys) rs377731410
NM_000492.3(CFTR):c.202A>G (p.Lys68Glu) rs397508332
NM_000492.3(CFTR):c.2042A>T (p.Glu681Val) rs201295415
NM_000492.3(CFTR):c.2145A>C (p.Gln715His) rs141235765
NM_000492.3(CFTR):c.2168G>T (p.Gly723Val) rs200531709
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) rs199791061
NM_000492.3(CFTR):c.221G>A (p.Arg74Gln) rs142540482
NM_000492.3(CFTR):c.224G>T (p.Arg75Leu) rs1800076
NM_000492.3(CFTR):c.2291G>A (p.Arg764Gln) rs1417904716
NM_000492.3(CFTR):c.2327C>T (p.Ser776Leu) rs397508365
NM_000492.3(CFTR):c.2374C>G (p.Arg792Gly) rs145449046
NM_000492.3(CFTR):c.2392C>T (p.Pro798Ser) rs138069616
NM_000492.3(CFTR):c.2402A>G (p.Asn801Ser) rs1562908192
NM_000492.3(CFTR):c.2406G>C (p.Leu802Phe) rs1314080734
NM_000492.3(CFTR):c.2433G>T (p.Arg811Ser) rs778688276
NM_000492.3(CFTR):c.2450G>T (p.Gly817Val) rs148604667
NM_000492.3(CFTR):c.2476G>A (p.Glu826Lys) rs397508381
NM_000492.3(CFTR):c.2490+14G>T rs573016418
NM_000492.3(CFTR):c.2490+19G>C rs368353825
NM_000492.3(CFTR):c.2502T>G (p.Phe834Leu) rs200735475
NM_000492.3(CFTR):c.2526A>G (p.Ala842=) rs758128209
NM_000492.3(CFTR):c.2557A>G (p.Ile853Val) rs780187979
NM_000492.3(CFTR):c.2563G>A (p.Val855Ile) rs397508397
NM_000492.3(CFTR):c.2597G>A (p.Cys866Tyr) rs193922506
NM_000492.3(CFTR):c.2619+17G>T rs1439697748
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2620-26_2620-25insG rs776600589
NM_000492.3(CFTR):c.2620-6T>C rs371315682
NM_000492.3(CFTR):c.2629T>G (p.Ser877Ala) rs761531223
NM_000492.3(CFTR):c.273+8T>A rs1189108407
NM_000492.3(CFTR):c.2733T>G (p.Ser911Arg) rs1562911534
NM_000492.3(CFTR):c.2734T>A (p.Ser912Thr) rs1554390984
NM_000492.3(CFTR):c.274-13T>C rs1021474992
NM_000492.3(CFTR):c.2756A>G (p.Tyr919Cys) rs397508430
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2762G>A (p.Gly921Glu) rs193922508
NM_000492.3(CFTR):c.276A>T (p.Glu92Asp) rs397508432
NM_000492.3(CFTR):c.2770G>A (p.Asp924Asn) rs201759207
NM_000492.3(CFTR):c.2806C>A (p.Pro936Thr) rs780528577
NM_000492.3(CFTR):c.2836A>G (p.Lys946Glu) rs397508443
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.2878C>T (p.Pro960Ser) rs185397588
NM_000492.3(CFTR):c.2895C>A (p.Asn965Lys) rs779569793
NM_000492.3(CFTR):c.2916_2917delinsAT (p.Leu973Phe) rs397508459
NM_000492.3(CFTR):c.2938A>G (p.Ile980Val) rs1554391473
NM_000492.3(CFTR):c.2976T>A (p.Phe992Leu) rs758250836
NM_000492.3(CFTR):c.2981T>G (p.Phe994Cys) rs397508469
NM_000492.3(CFTR):c.2988+13A>T rs1182945291
NM_000492.3(CFTR):c.2988+20G>A rs183819332
NM_000492.3(CFTR):c.29G>A (p.Ser10Asn) rs762241850
NM_000492.3(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.3(CFTR):c.31G>A (p.Val11Ile) rs1800072
NM_000492.3(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.3(CFTR):c.332C>T (p.Pro111Leu) rs140502196
NM_000492.3(CFTR):c.3368-20C>T rs761144879
NM_000492.3(CFTR):c.3409A>G (p.Met1137Val) rs397508553
NM_000492.3(CFTR):c.3415A>G (p.Ile1139Val) rs397508556
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.3(CFTR):c.355A>G (p.Ile119Val) rs193922518
NM_000492.3(CFTR):c.3577A>G (p.Ile1193Val) rs1562919375
NM_000492.3(CFTR):c.358G>A (p.Ala120Thr) rs201958172
NM_000492.3(CFTR):c.3590A>T (p.His1197Leu) rs765133036
NM_000492.3(CFTR):c.3601G>T (p.Asp1201Tyr) rs1182767623
NM_000492.3(CFTR):c.3650C>T (p.Ala1217Val) rs749662161
NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123
NM_000492.3(CFTR):c.365A>G (p.Tyr122Cys) rs377295859
NM_000492.3(CFTR):c.3672T>A (p.Asn1224Lys) rs371475225
NM_000492.3(CFTR):c.3680T>C (p.Leu1227Ser) rs397508593
NM_000492.3(CFTR):c.3682G>A (p.Glu1228Lys) rs759116351
NM_000492.3(CFTR):c.3717+130_3717+131del rs4148721
NM_000492.3(CFTR):c.3767C>T (p.Ala1256Val) rs773852510
NM_000492.3(CFTR):c.3803A>G (p.Gln1268Arg) rs766370233
NM_000492.3(CFTR):c.3815T>A (p.Val1272Glu) rs752834717
NM_000492.3(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.3(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.3(CFTR):c.3868C>A (p.Pro1290Thr) rs397508619
NM_000492.3(CFTR):c.3893G>C (p.Gly1298Ala) rs193922522
NM_000492.3(CFTR):c.3908A>C (p.Asn1303Thr) rs397508636
NM_000492.3(CFTR):c.3935A>G (p.Asp1312Gly) rs397508646
NM_000492.3(CFTR):c.3983T>C (p.Ile1328Thr) rs115762793
NM_000492.3(CFTR):c.4027G>A (p.Gly1343Ser) rs747324955
NM_000492.3(CFTR):c.4028G>T (p.Gly1343Val) rs773458471
NM_000492.3(CFTR):c.4031G>C (p.Cys1344Ser) rs368427311
NM_000492.3(CFTR):c.4045G>A (p.Gly1349Ser) rs201686600
NM_000492.3(CFTR):c.4053G>C (p.Lys1351Asn) rs763602969
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4061T>C (p.Met1354Thr) rs755993775
NM_000492.3(CFTR):c.4085G>A (p.Ser1362Asn) rs777892053
NM_000492.3(CFTR):c.4091C>T (p.Ala1364Val) rs397508670
NM_000492.3(CFTR):c.4096A>T (p.Ile1366Phe) rs770345073
NM_000492.3(CFTR):c.40A>G (p.Lys14Glu) rs397508673
NM_000492.3(CFTR):c.4136+14G>A rs1389376517
NM_000492.3(CFTR):c.4137-7T>C rs1400171855
NM_000492.3(CFTR):c.4137-9C>T rs1562929122
NM_000492.3(CFTR):c.4184G>T (p.Cys1395Phe) rs1330281974
NM_000492.3(CFTR):c.418C>T (p.Pro140Ser) rs145900055
NM_000492.3(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692
NM_000492.3(CFTR):c.41A>T (p.Lys14Ile) rs772774651
NM_000492.3(CFTR):c.4232A>C (p.Gln1411Pro) rs150177304
NM_000492.3(CFTR):c.4242+10T>C rs138642693
NM_000492.3(CFTR):c.4242+19A>C rs1554397608
NM_000492.3(CFTR):c.4436G>A (p.Arg1479Lys) rs1325117166
NM_000492.3(CFTR):c.451C>A (p.Gln151Lys) rs397508720
NM_000492.3(CFTR):c.464C>G (p.Ala155Gly) rs1554379882
NM_000492.3(CFTR):c.473G>C (p.Ser158Thr) rs397508725
NM_000492.3(CFTR):c.490A>G (p.Thr164Ala) rs200885306
NM_000492.3(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.3(CFTR):c.535C>A (p.Gln179Lys) rs367850319
NM_000492.3(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000492.3(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.3(CFTR):c.575A>T (p.Asp192Val) rs397508758
NM_000492.3(CFTR):c.610G>T (p.Ala204Ser) rs748026786
NM_000492.3(CFTR):c.625G>T (p.Ala209Ser) rs397508772
NM_000492.3(CFTR):c.638G>A (p.Gly213Glu) rs775701644
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.662C>T (p.Ala221Val) rs752432390
NM_000492.3(CFTR):c.709C>G (p.Gln237Glu) rs397508784
NM_000492.3(CFTR):c.711G>C (p.Gln237His) rs397508785
NM_000492.3(CFTR):c.743+4G>T rs193922530
NM_000492.3(CFTR):c.744-11T>C rs1554380747
NM_000492.3(CFTR):c.773G>T (p.Arg258Ile) rs377514639
NM_000492.3(CFTR):c.80G>T (p.Gly27Val) rs397508797
NM_000492.3(CFTR):c.842T>C (p.Met281Thr) rs397508802
NM_000492.3(CFTR):c.846A>T (p.Glu282Asp) rs142864834
NM_000492.3(CFTR):c.859A>T (p.Asn287Tyr) rs397508804
NM_000492.3(CFTR):c.869+14A>G rs1554380834
NM_000492.3(CFTR):c.869+3A>C rs1554380828
NM_000492.3(CFTR):c.869+8G>T rs773933167
NM_000492.3(CFTR):c.870-7_870-5del rs759762840
NM_000492.3(CFTR):c.889C>T (p.Arg297Trp) rs397508814
NM_000492.3(CFTR):c.902A>G (p.Tyr301Cys) rs150691494
NM_000492.3(CFTR):c.914T>G (p.Phe305Cys) rs1562892143
NM_000492.3(CFTR):c.926C>G (p.Ala309Gly) rs397508818
NM_000492.3(CFTR):c.944T>C (p.Phe315Ser) rs760319837
NM_000492.3(CFTR):c.947T>A (p.Phe316Tyr) rs779201407
NM_000492.3(CFTR):c.950T>C (p.Val317Ala) rs1204521684
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686
NM_000492.3(CFTR):c.[1210-16_1210-13dup;1210-6delT]
NM_000492.4(CFTR):c.1210-6del rs1805177
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552
NM_000492.4(CFTR):c.127G>A (p.Val43Ile) rs370586917
NM_000492.4(CFTR):c.1300T>C (p.Ser434Pro)
NM_000492.4(CFTR):c.134C>G (p.Ser45Cys)
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603
NM_000492.4(CFTR):c.1385C>G (p.Ala462Gly)
NM_000492.4(CFTR):c.1681G>A (p.Ala561Thr) rs1226880376
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys)
NM_000492.4(CFTR):c.1951G>A (p.Asp651Asn) rs780526529
NM_000492.4(CFTR):c.2052A>C (p.Lys684Asn)
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr) rs201444561
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg) rs142432539
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.2407A>T (p.Thr803Ser)
NM_000492.4(CFTR):c.2410G>A (p.Glu804Lys)
NM_000492.4(CFTR):c.2657+12A>G
NM_000492.4(CFTR):c.273+10255del rs193922507
NM_000492.4(CFTR):c.2752A>G (p.Ile918Val)
NM_000492.4(CFTR):c.2812G>T (p.Val938Leu)
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.4(CFTR):c.2936A>G (p.Asp979Gly)
NM_000492.4(CFTR):c.2988+47dup rs149902649
NM_000492.4(CFTR):c.3468+6T>C rs547442588
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val) rs75647395
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.4(CFTR):c.3857T>G (p.Phe1286Cys)
NM_000492.4(CFTR):c.3874-103del rs1282290289
NM_000492.4(CFTR):c.4048C>T (p.His1350Tyr)
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699
NM_000492.4(CFTR):c.4237T>C (p.Phe1413Leu)
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.4(CFTR):c.53+34_53+35del rs762372419
NM_000492.4(CFTR):c.538C>G (p.Leu180Val)
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.4(CFTR):c.712G>C (p.Ala238Pro)
NM_000492.4(CFTR):c.870-4A>G
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg)
NM_000492.4(CFTR):c.992T>A (p.Ile331Asn) rs397508825

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