ClinVar Miner

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

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Total variants: 170
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HGVS dbSNP
NC_000007.14:g.117559618_117559619delGA
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.1007T>A (p.Ile336Lys) rs397508139
NM_000492.3(CFTR):c.100_117delTTGTCAGACATATACCAA (p.Leu34_Gln39del) rs397508141
NM_000492.3(CFTR):c.1021_1022dupTC (p.Phe342Hisfs) rs387906360
NM_000492.3(CFTR):c.1045G>C (p.Ala349Pro)
NM_000492.3(CFTR):c.1116G>T (p.Gln372His)
NM_000492.3(CFTR):c.1117-2A>G rs1554381596
NM_000492.3(CFTR):c.1117G>A (p.Asp373Asn) rs556880586
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.1209+1G>T rs397508176
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.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1327_1330dupGATA (p.Ile444Argfs) rs397508189
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.3(CFTR):c.1373delG (p.Gly458Aspfs) rs397508196
NM_000492.3(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.3(CFTR):c.137C>T (p.Ala46Val)
NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.3(CFTR):c.1400T>C (p.Leu467Pro) rs139573311
NM_000492.3(CFTR):c.1408_1417del10 (p.Val470Glufs) rs397508204
NM_000492.3(CFTR):c.1415dup (p.Met472Ilefs) 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.148T>C (p.Ser50Pro) rs397508217
NM_000492.3(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.3(CFTR):c.1505T>G (p.Ile502Ser)
NM_000492.3(CFTR):c.1519A>T (p.Ile507Phe) rs1801178
NM_000492.3(CFTR):c.1525G>C (p.Gly509Arg)
NM_000492.3(CFTR):c.1559T>A (p.Val520Asp)
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.1692delA (p.Asp565Metfs) rs193922505
NM_000492.3(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.3(CFTR):c.1721C>A (p.Pro574His) rs121908758
NM_000492.3(CFTR):c.1760T>C (p.Phe587Ser)
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.1766+5G>T rs121908796
NM_000492.3(CFTR):c.1767-1G>A rs1554389241
NM_000492.3(CFTR):c.1820_1903del84 (p.Met607_Gln634del) rs121908777
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.3(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.3(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.3(CFTR):c.1A>G (p.Met1Val) rs397508328
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.2036G>A (p.Trp679Ter) rs397508333
NM_000492.3(CFTR):c.2044delA (p.Thr682Glnfs) rs1554389346
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.2395C>T (p.Gln799Ter) rs984281283
NM_000492.3(CFTR):c.2429delG (p.Arg810Lysfs) rs1057516236
NM_000492.3(CFTR):c.2475_2478dup (p.Glu827Argfs) rs1554389486
NM_000492.3(CFTR):c.2483dupA (p.Asp828Glufs) rs1057517276
NM_000492.3(CFTR):c.2490+1G>A rs141158996
NM_000492.3(CFTR):c.2490+2T>C rs1057516216
NM_000492.3(CFTR):c.2491-2A>C rs397508386
NM_000492.3(CFTR):c.2491G>T (p.Glu831Ter) rs397508387
NM_000492.3(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.3(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.3(CFTR):c.2554dupT (p.Tyr852Leufs) rs1057517068
NM_000492.3(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.3(CFTR):c.2644_2645dup (p.Trp882Cysfs) rs1554390864
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
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.2810dupT (p.Val938Glyfs) rs193922510
NM_000492.3(CFTR):c.2822delT (p.Leu941Glnfs) rs762844777
NM_000492.3(CFTR):c.2854delA (p.Met952Cysfs) 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.2875delG (p.Ala959Hisfs) rs397508447
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.2908+1G>A rs1060503164
NM_000492.3(CFTR):c.2909G>A (p.Gly970Asp) rs386134230
NM_000492.3(CFTR):c.2909_2924dup (p.Phe976Trpfs) rs1263488842
NM_000492.3(CFTR):c.2916_2952del37 (p.Ile972Metfs) rs1554391454
NM_000492.3(CFTR):c.292C>T (p.Gln98Ter) rs397508461
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.Gln996Profs) 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.325T>C (p.Tyr109His)
NM_000492.3(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.3(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.3(CFTR):c.3368-2A>G rs755416052
NM_000492.3(CFTR):c.3368-2A>T rs755416052
NM_000492.3(CFTR):c.3468+1G>A rs1554392798
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.3(CFTR):c.3495delG (p.Lys1165Asnfs) rs1057516970
NM_000492.3(CFTR):c.350G>A (p.Arg117His) 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_3539delCCAA (p.Thr1179Asnfs) rs121908782
NM_000492.3(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.3(CFTR):c.3691delT (p.Ser1231Profs) 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.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.3(CFTR):c.3739G>A (p.Gly1247Arg)
NM_000492.3(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.3(CFTR):c.380_382dupTAT (p.Leu127_Cys128insLeu) rs193922521
NM_000492.3(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.3(CFTR):c.3851_3852dupAA (p.Ala1285Lysfs) 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.3937C>T (p.Gln1313Ter) rs121909026
NM_000492.3(CFTR):c.3944_3951del8 (p.Ile1315Serfs) rs754392413
NM_000492.3(CFTR):c.3957_3958insAGGG (p.Asp1320Argfs) 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_3989delCA (p.Gln1330Valfs) rs1057516457
NM_000492.3(CFTR):c.3997G>T (p.Gly1333Trp) rs193922524
NM_000492.3(CFTR):c.4035_4038dup (p.Ser1347Profs) rs1554397497
NM_000492.3(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.3(CFTR):c.405_406dup (p.Leu136Hisfs) rs1554379846
NM_000492.3(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.3(CFTR):c.4124A>C (p.His1375Pro) rs397508678
NM_000492.3(CFTR):c.4143C>G (p.Tyr1381Ter) rs397508683
NM_000492.3(CFTR):c.4199delG (p.Cys1400Leufs) rs1554397593
NM_000492.3(CFTR):c.4242+1G>A rs372227120
NM_000492.3(CFTR):c.4242+1G>T rs372227120
NM_000492.3(CFTR):c.4242+2T>C rs193922526
NM_000492.3(CFTR):c.4242+5G>A
NM_000492.3(CFTR):c.445G>T (p.Gly149Ter) rs397508718
NM_000492.3(CFTR):c.488delA (p.Lys163Argfs) 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.Ser169Argfs) rs1554380311
NM_000492.3(CFTR):c.53+1G>T rs397508746
NM_000492.3(CFTR):c.531dup (p.Gly178Trpfs) 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.592G>A (p.Ala198Thr) rs193922529
NM_000492.3(CFTR):c.595C>T (p.His199Tyr) rs121908802
NM_000492.3(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.3(CFTR):c.657dup (p.Gln220Thrfs) rs1554380465
NM_000492.3(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.3(CFTR):c.739_742dupTACA (p.Arg248Ilefs) rs1057517342
NM_000492.3(CFTR):c.743+1G>C rs397508791
NM_000492.3(CFTR):c.744-2A>G rs1057516646
NM_000492.3(CFTR):c.811delT (p.Ser271Leufs) 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.850dupA (p.Met284Asnfs) 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.870-1G>C rs1351058559
NM_000492.3(CFTR):c.870-2A>G rs1290078234
NM_000492.3(CFTR):c.888_889dupTC (p.Arg297Leufs) rs1057516387
NM_000492.3(CFTR):c.950T>A (p.Val317Glu)
NM_000492.3(CFTR):c.997C>T (p.Leu333Phe) rs193922533

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