ClinVar Miner

List of variants in gene CFTR reported as likely pathogenic for Cystic fibrosis

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Gene type:
ClinVar version:
Total variants: 201
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HGVS dbSNP
NC_000007.14:g.(?_117509024)_(117509152_?)dup
NC_000007.14:g.(?_117530889)_(117540356_?)del
NC_000007.14:g.(?_117548631)_(117548835_?)del
NC_000007.14:g.(?_117606659)_(117614723_?)dup
NM_000492.3(CFTR):c.(1341+1_1342-1)_(1716+1_1717-1)del
NM_000492.3(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.3(CFTR):c.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.3(CFTR):c.1116G>T (p.Gln372His) rs1584789514
NM_000492.3(CFTR):c.1117-2A>G rs1554381596
NM_000492.3(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.3(CFTR):c.114C>G (p.Tyr38Ter) rs193922498
NM_000492.3(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.3(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.3(CFTR):c.1315C>T (p.Pro439Ser) rs397508187
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.3(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.3(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.3(CFTR):c.1394C>A (p.Thr465Asn) rs758900656
NM_000492.3(CFTR):c.1400T>C (p.Leu467Pro) rs139573311
NM_000492.3(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.3(CFTR):c.1415dup (p.Met472fs) rs1554384343
NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) rs79282516
NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) rs121909017
NM_000492.3(CFTR):c.1505T>A (p.Ile502Asn) rs397508222
NM_000492.3(CFTR):c.1519A>T (p.Ile507Phe) rs1801178
NM_000492.3(CFTR):c.1572C>A (p.Cys524Ter) rs121908754
NM_000492.3(CFTR):c.164+1G>C rs397508243
NM_000492.3(CFTR):c.1680-1G>C rs121908794
NM_000492.3(CFTR):c.1680-877G>T rs397508261
NM_000492.3(CFTR):c.1680-883A>G rs1554388867
NM_000492.3(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.3(CFTR):c.1692del (p.Asp565fs) rs193922505
NM_000492.3(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.3(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.3(CFTR):c.1721C>A (p.Pro574His) rs121908758
NM_000492.3(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.3(CFTR):c.1766+1G>T rs121908748
NM_000492.3(CFTR):c.1766+2T>A rs1554389062
NM_000492.3(CFTR):c.1766+2T>C rs1554389062
NM_000492.3(CFTR):c.1767-1G>A rs1554389241
NM_000492.3(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.3(CFTR):c.1826A>G (p.His609Arg) rs397508310
NM_000492.3(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.3(CFTR):c.1979C>G (p.Ser660Ter) rs1562907896
NM_000492.3(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.3(CFTR):c.2036G>A (p.Trp679Ter) rs397508333
NM_000492.3(CFTR):c.2044del (p.Thr682fs) rs1554389346
NM_000492.3(CFTR):c.2203del (p.Arg735fs) rs397508351
NM_000492.3(CFTR):c.2353C>T (p.Arg785Ter) rs374946172
NM_000492.3(CFTR):c.2395C>T (p.Gln799Ter) rs984281283
NM_000492.3(CFTR):c.2429del (p.Arg810fs) rs1057516236
NM_000492.3(CFTR):c.2475_2478dup (p.Glu827fs) rs1554389486
NM_000492.3(CFTR):c.2483dup (p.Asp828fs) rs1057517276
NM_000492.3(CFTR):c.2490+2T>C rs1057516216
NM_000492.3(CFTR):c.2491-2A>C rs397508386
NM_000492.3(CFTR):c.2554dup (p.Tyr852fs) rs1057517068
NM_000492.3(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.3(CFTR):c.273+3A>C rs74467662
NM_000492.3(CFTR):c.273G>C (p.Gly91=) rs773739166
NM_000492.3(CFTR):c.274-1G>C rs121908792
NM_000492.3(CFTR):c.2768C>A (p.Ala923Asp) rs193922509
NM_000492.3(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.3(CFTR):c.2810dup (p.Val938fs) rs193922510
NM_000492.3(CFTR):c.2822del (p.Leu941fs) rs762844777
NM_000492.3(CFTR):c.2846A>T (p.His949Leu) rs397508444
NM_000492.3(CFTR):c.2854del (p.Met952fs) rs1057517032
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.3(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.3(CFTR):c.2908+1G>A rs1060503164
NM_000492.3(CFTR):c.2909-15T>G rs397508455
NM_000492.3(CFTR):c.2909_2924dup
NM_000492.3(CFTR):c.2916_2952del (p.Ile972fs) rs1554391454
NM_000492.3(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) rs397508464
NM_000492.3(CFTR):c.2986dup (p.Gln996fs) rs1554391491
NM_000492.3(CFTR):c.2988+1G>C rs75096551
NM_000492.3(CFTR):c.2T>C (p.Met1Thr) rs397508476
NM_000492.3(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.3(CFTR):c.3368-2A>T rs755416052
NM_000492.3(CFTR):c.3468+1G>A rs1554392798
NM_000492.3(CFTR):c.3495del (p.Lys1165fs) rs1057516970
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.3529A>T (p.Lys1177Ter) rs397508578
NM_000492.3(CFTR):c.3533C>A (p.Ser1178Ter) rs1057516609
NM_000492.3(CFTR):c.3536_3539del (p.Thr1179fs) rs121908782
NM_000492.3(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.3(CFTR):c.3623del (p.Gly1208fs) rs35396083
NM_000492.3(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.3(CFTR):c.370G>C (p.Gly124Arg) rs193922519
NM_000492.3(CFTR):c.3712C>T (p.Gln1238Ter) rs121908766
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.3(CFTR):c.3717+4A>G rs387906362
NM_000492.3(CFTR):c.3717+5G>A rs193922520
NM_000492.3(CFTR):c.380_382dup (p.Leu127dup) rs193922521
NM_000492.3(CFTR):c.3851_3852dup (p.Ala1285fs) rs1057517404
NM_000492.3(CFTR):c.3873+1G>T rs143570767
NM_000492.3(CFTR):c.3874-2A>G rs1554396384
NM_000492.3(CFTR):c.3922G>T (p.Glu1308Ter) rs397508643
NM_000492.3(CFTR):c.3929G>A (p.Trp1310Ter) rs397508645
NM_000492.3(CFTR):c.3944_3951del (p.Ile1315fs) rs754392413
NM_000492.3(CFTR):c.3957_3958insAGGG (p.Asp1320fs) rs193922523
NM_000492.3(CFTR):c.3963+1G>C rs672601314
NM_000492.3(CFTR):c.3963+2T>G rs397508650
NM_000492.3(CFTR):c.3988_3989del (p.Gln1330fs) rs1057516457
NM_000492.3(CFTR):c.3997G>T (p.Gly1333Trp) rs193922524
NM_000492.3(CFTR):c.4035_4038dup (p.Ser1347fs) rs1554397497
NM_000492.3(CFTR):c.403_404AC[3] (p.Leu136fs) rs1554379846
NM_000492.3(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.3(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.3(CFTR):c.4143C>G (p.Tyr1381Ter) rs397508683
NM_000492.3(CFTR):c.4199del (p.Cys1400fs) rs1554397593
NM_000492.3(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.3(CFTR):c.4242+1G>A rs372227120
NM_000492.3(CFTR):c.4242+2T>C rs193922526
NM_000492.3(CFTR):c.445G>T (p.Gly149Ter) rs397508718
NM_000492.3(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.3(CFTR):c.489+2T>C rs397508732
NM_000492.3(CFTR):c.490-1G>A rs397508734
NM_000492.3(CFTR):c.506dup (p.Ser169fs) rs1554380311
NM_000492.3(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.3(CFTR):c.56G>A (p.Trp19Ter) rs1057516232
NM_000492.3(CFTR):c.575A>G (p.Asp192Gly) rs397508758
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.57G>T (p.Trp19Cys) rs397508762
NM_000492.3(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.3(CFTR):c.595C>T (p.His199Tyr) rs121908802
NM_000492.3(CFTR):c.657dup (p.Gln220fs) rs1554380465
NM_000492.3(CFTR):c.739_742dup (p.Arg248fs) rs1057517342
NM_000492.3(CFTR):c.743+1G>C rs397508791
NM_000492.3(CFTR):c.743+2T>C rs1584787119
NM_000492.3(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.3(CFTR):c.744-2A>G rs1057516646
NM_000492.3(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.3(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.3(CFTR):c.835G>T (p.Glu279Ter) rs1199914684
NM_000492.3(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.3(CFTR):c.865A>T (p.Arg289Ter) rs1057516619
NM_000492.3(CFTR):c.869+3A>T rs1554380828
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000492.3(CFTR):c.870-1G>C rs1351058559
NM_000492.3(CFTR):c.870-2A>G rs1290078234
NM_000492.3(CFTR):c.888_889dup (p.Arg297fs) rs1057516387
NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) rs121908768
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686
NM_000492.3(CFTR):c.997C>T (p.Leu333Phe) rs193922533
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro) rs1562892293
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn) rs556880586
NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter)
NM_000492.4(CFTR):c.1209+1G>T rs397508176
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603
NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu)
NM_000492.4(CFTR):c.1391A>C (p.Lys464Thr) rs1584793633
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.4(CFTR):c.1505T>G (p.Ile502Ser) rs397508222
NM_000492.4(CFTR):c.1525G>C (p.Gly509Arg) rs1562898465
NM_000492.4(CFTR):c.1546_1548delinsT (p.Arg516fs)
NM_000492.4(CFTR):c.1547_1548del (p.Arg516fs) rs1562898489
NM_000492.4(CFTR):c.1559T>A (p.Val520Asp) rs1562898510
NM_000492.4(CFTR):c.1760T>C (p.Phe587Ser) rs1562907260
NM_000492.4(CFTR):c.1766+5G>T rs121908796
NM_000492.4(CFTR):c.1801del (p.Ile601fs)
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.234dup (p.Trp79fs)
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.4(CFTR):c.2642_2643TG[3] (p.Trp882fs) rs1554390864
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461
NM_000492.4(CFTR):c.325T>C (p.Tyr109His) rs397508522
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3468+1G>T
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg) rs397508601
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.376G>A rs397508606
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4242+1G>T rs372227120
NM_000492.4(CFTR):c.4242+5G>A rs1562929196
NM_000492.4(CFTR):c.489+3A>G rs377729736
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532
NM_000492.4(CFTR):c.950T>A (p.Val317Glu) rs1204521684

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