ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 199
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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.1052C>T (p.Thr351Ile) rs1800086
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1059A>G (p.Gln353=) rs1800087
NM_000492.3(CFTR):c.1163C>T (p.Thr388Met) rs143860237
NM_000492.3(CFTR):c.1177G>C (p.Val393Leu)
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.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-6delT rs1805177
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.1270G>A (p.Gly424Ser) rs371107552
NM_000492.3(CFTR):c.1307T>C (p.Leu436Pro) rs1554382639
NM_000492.3(CFTR):c.1311T>C (p.Gly437=)
NM_000492.3(CFTR):c.1343T>C (p.Ile448Thr) rs748642635
NM_000492.3(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.3(CFTR):c.137C>T (p.Ala46Val)
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.1492A>G (p.Met498Val)
NM_000492.3(CFTR):c.1495C>T (p.Pro499Ser) rs397508219
NM_000492.3(CFTR):c.1500C>A (p.Gly500=) rs762619288
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)
NM_000492.3(CFTR):c.1584+12T>C rs193922502
NM_000492.3(CFTR):c.164+12T>C rs121908790
NM_000492.3(CFTR):c.1680-13A>G rs757981933
NM_000492.3(CFTR):c.1680-877G>A rs397508261
NM_000492.3(CFTR):c.1684G>A (p.Val562Ile) rs1800097
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.1734A>G (p.Leu578=) rs201025424
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.1950C>T (p.Phe650=) rs200204024
NM_000492.3(CFTR):c.202A>G (p.Lys68Glu) rs397508332
NM_000492.3(CFTR):c.2057C>A (p.Ser686Tyr) rs201444561
NM_000492.3(CFTR):c.2112A>G (p.Pro704=) rs926782023
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) rs199791061
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.2280G>A (p.Thr760=)
NM_000492.3(CFTR):c.2291G>A (p.Arg764Gln)
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)
NM_000492.3(CFTR):c.2406G>C (p.Leu802Phe) rs1314080734
NM_000492.3(CFTR):c.2433G>T (p.Arg811Ser)
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.2506G>T (p.Asp836Tyr) rs201386642
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.2559T>C (p.Ile853=) rs1800104
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.2620-6T>C rs371315682
NM_000492.3(CFTR):c.273+10255delC rs193922507
NM_000492.3(CFTR):c.273+8T>A rs1189108407
NM_000492.3(CFTR):c.2733T>G (p.Ser911Arg)
NM_000492.3(CFTR):c.2734T>A (p.Ser912Thr) rs1554390984
NM_000492.3(CFTR):c.274-13T>C
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.2766A>G (p.Val922=)
NM_000492.3(CFTR):c.2769C>T (p.Ala923=) rs1800108
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.2820T>G (p.Thr940=) rs60887846
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)
NM_000492.3(CFTR):c.2899T>C (p.Leu967=) rs1554391080
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
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.2988+47dup
NM_000492.3(CFTR):c.31G>A (p.Val11Ile) rs1800072
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.3429G>A (p.Leu1143=) rs375845215
NM_000492.3(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.355A>G (p.Ile119Val) rs193922518
NM_000492.3(CFTR):c.3564G>A (p.Ser1188=) rs146804928
NM_000492.3(CFTR):c.3577A>G (p.Ile1193Val)
NM_000492.3(CFTR):c.358G>A (p.Ala120Thr) rs201958172
NM_000492.3(CFTR):c.3590A>T (p.His1197Leu)
NM_000492.3(CFTR):c.3601G>T (p.Asp1201Tyr)
NM_000492.3(CFTR):c.3607A>G (p.Ile1203Val) rs75647395
NM_000492.3(CFTR):c.360G>A (p.Ala120=) rs1800077
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)
NM_000492.3(CFTR):c.3717+130_3717+131del rs4148721
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.3759G>A (p.Leu1253=) rs117400534
NM_000492.3(CFTR):c.3767C>T (p.Ala1256Val) rs773852510
NM_000492.3(CFTR):c.3789T>C (p.Thr1263=) rs200921635
NM_000492.3(CFTR):c.3803A>G (p.Gln1268Arg)
NM_000492.3(CFTR):c.3807C>T (p.Ile1269=) rs1800129
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3815T>A (p.Val1272Glu) rs752834717
NM_000492.3(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.3(CFTR):c.3868C>A (p.Pro1290Thr)
NM_000492.3(CFTR):c.3874-103delT rs1282290289
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.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.4091C>T (p.Ala1364Val) rs397508670
NM_000492.3(CFTR):c.4096A>T (p.Ile1366Phe)
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
NM_000492.3(CFTR):c.4137-9C>T
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.4197C>G (p.Leu1399=) rs79688066
NM_000492.3(CFTR):c.41A>T (p.Lys14Ile) rs772774651
NM_000492.3(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699
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.426T>C (p.Ile142=) rs1554379864
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>A (p.Ser158Asn)
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.490A>G (p.Thr164Ala)
NM_000492.3(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.3(CFTR):c.53+34_53+35delAC
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.571T>G (p.Phe191Val) rs141482808
NM_000492.3(CFTR):c.575A>T (p.Asp192Val)
NM_000492.3(CFTR):c.610G>T (p.Ala204Ser) rs748026786
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.711G>C (p.Gln237His) rs397508785
NM_000492.3(CFTR):c.720A>G (p.Leu240=) rs1344097861
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)
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
NM_000492.3(CFTR):c.889C>T (p.Arg297Trp) rs397508814
NM_000492.3(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000492.3(CFTR):c.902A>G (p.Tyr301Cys) rs150691494
NM_000492.3(CFTR):c.914T>G (p.Phe305Cys)
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)
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.972C>G (p.Pro324=) rs1799834
NM_000492.3(CFTR):c.992T>A (p.Ile331Asn) rs397508825
NM_000492.3(CFTR):c.[1210-16_1210-13dup;1210-6delT]

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