ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 182
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HGVS dbSNP
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1067G>C (p.Trp356Ser) rs573808767
NM_000492.3(CFTR):c.1094T>C (p.Leu365Pro) rs76727851
NM_000492.3(CFTR):c.1125A>C (p.Leu375Phe) rs73215912
NM_000492.3(CFTR):c.1133A>G (p.Gln378Arg) rs768589673
NM_000492.3(CFTR):c.1148T>C (p.Leu383Ser) rs397508166
NM_000492.3(CFTR):c.1196C>T (p.Ala399Val) rs146463120
NM_000492.3(CFTR):c.1209+6A>G rs749054857
NM_000492.3(CFTR):c.1209+80G>A rs948980243
NM_000492.3(CFTR):c.1220A>T (p.Glu407Val) rs397508180
NM_000492.3(CFTR):c.1245_1247delCAA (p.Asn418del) rs1554382616
NM_000492.3(CFTR):c.125C>T (p.Ser42Phe) rs143456784
NM_000492.3(CFTR):c.1270G>A (p.Gly424Ser) rs371107552
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.3(CFTR):c.1352G>T (p.Gly451Val) rs1554382653
NM_000492.3(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.3(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.3(CFTR):c.1453A>T (p.Ser485Cys) rs138427145
NM_000492.3(CFTR):c.1472G>T (p.Cys491Phe) rs778205742
NM_000492.3(CFTR):c.1478A>C (p.Gln493Pro) rs397508214
NM_000492.3(CFTR):c.149C>A (p.Ser50Tyr) rs397508220
NM_000492.3(CFTR):c.1501A>G (p.Thr501Ala) rs397508221
NM_000492.3(CFTR):c.1517T>C (p.Ile506Thr) rs397508224
NM_000492.3(CFTR):c.1543T>C (p.Tyr515His) rs778175128
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.1580A>G (p.Glu527Gly) rs374453187
NM_000492.3(CFTR):c.1584+18672A>G rs397508229
NM_000492.3(CFTR):c.1584+4A>T rs953352440
NM_000492.3(CFTR):c.1584G>T (p.Glu528Asp) rs1800095
NM_000492.3(CFTR):c.164+2dup rs1554375870
NM_000492.3(CFTR):c.1680-2dup rs1554389008
NM_000492.3(CFTR):c.1680-885T>C rs1281580863
NM_000492.3(CFTR):c.1697C>A (p.Ala566Asp) rs1375786834
NM_000492.3(CFTR):c.16C>G (p.Leu6Val) rs1554373095
NM_000492.3(CFTR):c.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.3(CFTR):c.1745C>T (p.Thr582Ile) rs397508293
NM_000492.3(CFTR):c.1792A>G (p.Lys598Glu) rs397508302
NM_000492.3(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.3(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.3(CFTR):c.1897C>A (p.Leu633Ile) rs397508317
NM_000492.3(CFTR):c.1907T>C (p.Leu636Pro) rs374702882
NM_000492.3(CFTR):c.1912C>T (p.Pro638Ser) rs1368033715
NM_000492.3(CFTR):c.1950C>A (p.Phe650Leu) rs200204024
NM_000492.3(CFTR):c.202A>G (p.Lys68Glu) rs397508332
NM_000492.3(CFTR):c.204A>T (p.Lys68Asn) rs397508335
NM_000492.3(CFTR):c.2057C>A (p.Ser686Tyr) rs201444561
NM_000492.3(CFTR):c.2077T>C (p.Phe693Leu) rs397508338
NM_000492.3(CFTR):c.2079T>G (p.Phe693Leu) rs145540754
NM_000492.3(CFTR):c.2087A>G (p.Lys696Arg) rs397508340
NM_000492.3(CFTR):c.2168G>T (p.Gly723Val) rs200531709
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.221G>A (p.Arg74Gln) rs142540482
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.2279C>T (p.Thr760Met) rs397508359
NM_000492.3(CFTR):c.2430_2432delAAG (p.Arg811del) rs1554389478
NM_000492.3(CFTR):c.244A>G (p.Met82Val) rs1554376431
NM_000492.3(CFTR):c.2476G>A (p.Glu826Lys) rs397508381
NM_000492.3(CFTR):c.2490+4_2490+6dup rs1554389497
NM_000492.3(CFTR):c.2502T>G (p.Phe834Leu) rs200735475
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.2557A>T (p.Ile853Phe) rs780187979
NM_000492.3(CFTR):c.2566_2567insTAC (p.Val855_His856insLeu) rs774507425
NM_000492.3(CFTR):c.2597G>A (p.Cys866Tyr) rs193922506
NM_000492.3(CFTR):c.2619+3A>G rs397508408
NM_000492.3(CFTR):c.2619G>A (p.Glu873=) rs397508409
NM_000492.3(CFTR):c.2620-97C>T rs146376436
NM_000492.3(CFTR):c.2657+17C>T rs368543375
NM_000492.3(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.3(CFTR):c.2687C>T (p.Thr896Ile) rs752617117
NM_000492.3(CFTR):c.2719A>G (p.Ile907Val) rs397508423
NM_000492.3(CFTR):c.274-3T>C rs1554379763
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2770G>A (p.Asp924Asn) rs201759207
NM_000492.3(CFTR):c.2815C>G (p.His939Asp) rs397508439
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.2876C>T (p.Ala959Val) rs397508448
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.3(CFTR):c.2908+19G>C rs370683572
NM_000492.3(CFTR):c.2908+3A>C rs1554391091
NM_000492.3(CFTR):c.2908G>A (p.Gly970Ser) rs397508453
NM_000492.3(CFTR):c.2909-15T>G rs397508455
NM_000492.3(CFTR):c.2909-4A>G rs397508457
NM_000492.3(CFTR):c.2909-8_2909-7insTAAT rs1554391448
NM_000492.3(CFTR):c.290T>C (p.Val97Ala) rs1235363099
NM_000492.3(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys) rs397508463
NM_000492.3(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.3(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.3(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.3(CFTR):c.328G>A (p.Asp110Asn) rs113993958
NM_000492.3(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.3(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.3(CFTR):c.3380G>A (p.Gly1127Glu) rs1434504483
NM_000492.3(CFTR):c.3410T>C (p.Met1137Thr) rs397508555
NM_000492.3(CFTR):c.3444C>A (p.Asn1148Lys) rs397508565
NM_000492.3(CFTR):c.3460G>T (p.Asp1154Tyr) rs397508568
NM_000492.3(CFTR):c.3468+6T>C rs547442588
NM_000492.3(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.3(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.3(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.3(CFTR):c.3623G>A (p.Gly1208Asp) rs746103666
NM_000492.3(CFTR):c.3709G>A (p.Gly1237Ser) rs1554394076
NM_000492.3(CFTR):c.3713A>G (p.Gln1238Arg) rs397508594
NM_000492.3(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.3(CFTR):c.3764C>T (p.Ser1255Leu) rs76649725
NM_000492.3(CFTR):c.3787A>G (p.Thr1263Ala) rs1554395363
NM_000492.3(CFTR):c.3794G>T (p.Gly1265Val) rs1554395370
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.3(CFTR):c.3873G>C (p.Gln1291His) rs121909015
NM_000492.3(CFTR):c.3874-14C>G rs184271150
NM_000492.3(CFTR):c.3874-4522A>G rs895394181
NM_000492.3(CFTR):c.3874-4A>G rs201381687
NM_000492.3(CFTR):c.3877G>A (p.Val1293Ile) rs769931559
NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.3(CFTR):c.3935A>G (p.Asp1312Gly) rs397508646
NM_000492.3(CFTR):c.3937C>A (p.Gln1313Lys) rs121909026
NM_000492.3(CFTR):c.3953T>C (p.Val1318Ala) rs397508648
NM_000492.3(CFTR):c.3964-28G>A rs397508651
NM_000492.3(CFTR):c.4015C>T (p.Leu1339Phe) rs397508660
NM_000492.3(CFTR):c.4031G>C (p.Cys1344Ser) rs368427311
NM_000492.3(CFTR):c.4051A>G (p.Lys1351Glu) rs397508666
NM_000492.3(CFTR):c.4053G>C (p.Lys1351Asn) rs763602969
NM_000492.3(CFTR):c.4064G>T (p.Cys1355Phe) rs755028771
NM_000492.3(CFTR):c.4091C>T (p.Ala1364Val) rs397508670
NM_000492.3(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.3(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.3(CFTR):c.4123C>A (p.His1375Asn) rs146947665
NM_000492.3(CFTR):c.4129G>A (p.Asp1377Asn) rs150683293
NM_000492.3(CFTR):c.4141T>C (p.Tyr1381His) rs397508682
NM_000492.3(CFTR):c.4190T>A (p.Val1397Glu) rs397508691
NM_000492.3(CFTR):c.4202A>G (p.Glu1401Gly) rs397508697
NM_000492.3(CFTR):c.4207A>G (p.Arg1403Gly) rs970498675
NM_000492.3(CFTR):c.505A>G (p.Ser169Gly) rs1554380309
NM_000492.3(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.3(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.3(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.3(CFTR):c.53+4A>T rs372610364
NM_000492.3(CFTR):c.530T>C (p.Ile177Thr) rs397508747
NM_000492.3(CFTR):c.533G>A (p.Gly178Glu) rs397508748
NM_000492.3(CFTR):c.535C>A (p.Gln179Lys) rs367850319
NM_000492.3(CFTR):c.54-13C>G rs397508749
NM_000492.3(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.3(CFTR):c.561C>A (p.Asn187Lys) rs397508754
NM_000492.3(CFTR):c.563T>C (p.Leu188Pro) rs766640075
NM_000492.3(CFTR):c.579+34A>G rs148209839
NM_000492.3(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.3(CFTR):c.610G>A (p.Ala204Thr) rs748026786
NM_000492.3(CFTR):c.648G>T (p.Trp216Cys) rs397508776
NM_000492.3(CFTR):c.715G>A (p.Gly239Arg) rs397508788
NM_000492.3(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.3(CFTR):c.744-13_744-6delGATTGATT rs1805171
NM_000492.3(CFTR):c.744-6T>G rs878854022
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.3(CFTR):c.794T>G (p.Met265Arg) rs148519623
NM_000492.3(CFTR):c.80G>A (p.Gly27Glu) rs397508797
NM_000492.3(CFTR):c.819_824del6 (p.Lys273_Tyr275delinsAsn) rs1554380796
NM_000492.3(CFTR):c.842T>C (p.Met281Thr) rs397508802
NM_000492.3(CFTR):c.859A>T (p.Asn287Tyr) rs397508804
NM_000492.3(CFTR):c.861C>G (p.Asn287Lys) rs112162204
NM_000492.3(CFTR):c.869+25A>G rs1554380840
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000492.3(CFTR):c.870-5dup rs759762840
NM_000492.3(CFTR):c.889C>T (p.Arg297Trp) rs397508814
NM_000492.3(CFTR):c.895G>A (p.Ala299Thr) rs1180803268
NM_000492.3(CFTR):c.913T>G (p.Phe305Val) rs201885470
NM_000492.3(CFTR):c.926C>A (p.Ala309Asp) rs397508818
NM_000492.3(CFTR):c.926C>G (p.Ala309Gly) rs397508818
NM_000492.3(CFTR):c.926C>T (p.Ala309Val) rs397508818
NM_000492.3(CFTR):c.92G>A (p.Arg31His) rs149353983
NM_000492.3(CFTR):c.92G>T (p.Arg31Leu) rs149353983
NM_000492.3(CFTR):c.940G>C (p.Gly314Arg) rs397508819
NM_000492.3(CFTR):c.941G>A (p.Gly314Glu) rs75763344
NM_000492.3(CFTR):c.94C>A (p.Leu32Met) rs776797377
NM_000492.3(CFTR):c.971C>T (p.Pro324Leu) rs397508822

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