ClinVar Miner

Variants in gene CFTR with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
961 467 3 169 69 25 92 266

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor other
pathogenic 0 120 68 17 13 1 22 1 3 1
likely pathogenic 118 0 49 6 4 0 9 0 1 1
uncertain significance 68 50 3 65 35 1 6 1 1 1
likely benign 16 6 64 0 51 0 2 0 1 1
benign 12 4 34 51 0 0 2 0 0 0
drug response 21 9 5 2 2 0 0 0 1 0
risk factor 2 1 1 1 0 0 1 0 0 0
other 1 1 1 1 0 0 0 0 0 0

All variants with conflicting interpretations #

Total variants: 266
Download table as spreadsheet
HGVS dbSNP
Multiple alleles
NM_000492.3(CFTR):c.*1043A>C rs10234329
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1040G>T (p.Arg347Leu) rs77932196
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.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) rs121908753
NM_000492.3(CFTR):c.1117G>A (p.Asp373Asn) rs556880586
NM_000492.3(CFTR):c.1141A>T (p.Lys381Ter) rs1554381605
NM_000492.3(CFTR):c.1163C>T (p.Thr388Met) rs143860237
NM_000492.3(CFTR):c.1209+18A>C rs193922499
NM_000492.3(CFTR):c.1209+1G>T rs397508176
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1210-13G>T rs10229820
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000492.3(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.3(CFTR):c.1312A>G (p.Thr438Ala) rs201434579
NM_000492.3(CFTR):c.1315C>T (p.Pro439Ser) rs397508187
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1330_1331delAT rs397508190
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.3(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.3(CFTR):c.1365G>A (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1365G>T (p.Ala455=) rs79074685
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.137C>T (p.Ala46Val) rs151020603
NM_000492.3(CFTR):c.1394C>A (p.Thr465Asn) rs758900656
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.1408G>A (p.Val470Met) rs213950
NM_000492.3(CFTR):c.1409_1418del (p.Val470fs) rs397508204
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.14C>T (p.Pro5Leu) rs193922501
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1517T>C (p.Ile506Thr) rs397508224
NM_000492.3(CFTR):c.1519A>G (p.Ile507Val) rs1801178
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1572C>A (p.Cys524Ter) rs121908754
NM_000492.3(CFTR):c.1580A>G (p.Glu527Gly) rs374453187
NM_000492.3(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.3(CFTR):c.1584+12T>C rs193922502
NM_000492.3(CFTR):c.1584+18672A>G rs397508229
NM_000492.3(CFTR):c.1584+53_1584+63dup rs397508232
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.164+12T>C rs121908790
NM_000492.3(CFTR):c.164+1G>C rs397508243
NM_000492.3(CFTR):c.164+28A>G rs34010645
NM_000492.3(CFTR):c.164+2dup rs1554375870
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.1682C>A (p.Ala561Glu) rs121909047
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.1692del (p.Asp565fs) rs193922505
NM_000492.3(CFTR):c.1705T>C (p.Tyr569His) rs397508276
NM_000492.3(CFTR):c.1721C>A (p.Pro574His) rs121908758
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
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.1766G>A (p.Ser589Asn) rs397508300
NM_000492.3(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
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.1826A>T (p.His609Leu) rs397508310
NM_000492.3(CFTR):c.1841A>G (p.Asp614Gly) rs201124247
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.1882G>C (p.Gly628Arg) rs397508316
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
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.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.2055A>G (p.Gln685=) rs1457520634
NM_000492.3(CFTR):c.2079T>G (p.Phe693Leu) rs145540754
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.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
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.2280G>A (p.Thr760=) rs138634146
NM_000492.3(CFTR):c.2353C>T (p.Arg785Ter) rs374946172
NM_000492.3(CFTR):c.2392C>T (p.Pro798Ser) rs138069616
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs144055758
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.3(CFTR):c.2554dup (p.Tyr852fs) rs1057517068
NM_000492.3(CFTR):c.2559T>C (p.Ile853=) rs1800104
NM_000492.3(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.3(CFTR):c.2604A>G (p.Val868=) rs1800105
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.263T>G (p.Leu88Ter) rs397508412
NM_000492.3(CFTR):c.2657+17C>T rs368543375
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.2706C>G (p.Ser902Arg) rs397508422
NM_000492.3(CFTR):c.273+3A>C rs74467662
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2736G>C (p.Ser912=) rs200901072
NM_000492.3(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008
NM_000492.3(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377
NM_000492.3(CFTR):c.274-1G>C rs121908792
NM_000492.3(CFTR):c.274-6T>C rs371315549
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2769C>T (p.Ala923=) rs1800108
NM_000492.3(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly) rs397508436
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs) rs1554391033
NM_000492.3(CFTR):c.2810dup (p.Val938fs) rs193922510
NM_000492.3(CFTR):c.2813T>G (p.Val938Gly) rs193922511
NM_000492.3(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.2835G>A (p.Ser945=) rs193922513
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.2898G>A (p.Thr966=) rs1800109
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.2908+1G>A rs1060503164
NM_000492.3(CFTR):c.2909-15T>G rs397508455
NM_000492.3(CFTR):c.2909G>A (p.Gly970Asp) rs386134230
NM_000492.3(CFTR):c.292C>T (p.Gln98Ter) rs397508461
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
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.293A>G (p.Gln98Arg) rs397508464
NM_000492.3(CFTR):c.2T>C (p.Met1Thr) rs397508476
NM_000492.3(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.3(CFTR):c.313del (p.Ile105fs) rs121908801
NM_000492.3(CFTR):c.323C>T (p.Ser108Phe) rs397508520
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.330C>A (p.Asp110Glu) rs397508537
NM_000492.3(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.3(CFTR):c.332C>T (p.Pro111Leu) rs140502196
NM_000492.3(CFTR):c.3368-2A>G rs755416052
NM_000492.3(CFTR):c.3368-2A>T rs755416052
NM_000492.3(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.3(CFTR):c.3415A>G (p.Ile1139Val) rs397508556
NM_000492.3(CFTR):c.3429G>A (p.Leu1143=) rs375845215
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.3458T>A (p.Val1153Glu) rs397508567
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) rs139729994
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.3475T>C (p.Ser1159Pro) rs397508572
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.3564G>A (p.Ser1188=) rs146804928
NM_000492.3(CFTR):c.3588A>T (p.Ser1196=) rs759202870
NM_000492.3(CFTR):c.360G>A (p.Ala120=) rs1800077
NM_000492.3(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123
NM_000492.3(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
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+45G>A rs145743767
NM_000492.3(CFTR):c.3717+4A>G rs387906362
NM_000492.3(CFTR):c.3717+5G>A rs193922520
NM_000492.3(CFTR):c.3718-24G>A rs374013084
NM_000492.3(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723
NM_000492.3(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.3(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330
NM_000492.3(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.3(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607
NM_000492.3(CFTR):c.377G>A (p.Gly126Asp) rs397508609
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.3870A>G (p.Pro1290=) rs1800130
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.3874-4522A>G rs895394181
NM_000492.3(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.3(CFTR):c.3908A>T (p.Asn1303Ile) rs397508636
NM_000492.3(CFTR):c.393T>C (p.Phe131=) rs1039221071
NM_000492.3(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.3(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.3(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.3(CFTR):c.410T>C (p.Leu137Pro) rs397508674
NM_000492.3(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.3(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.3(CFTR):c.4197C>G (p.Leu1399=) rs79688066
NM_000492.3(CFTR):c.4242+10T>C rs138642693
NM_000492.3(CFTR):c.4242+13A>G rs76179227
NM_000492.3(CFTR):c.4242+1G>A rs372227120
NM_000492.3(CFTR):c.4242+1G>T rs372227120
NM_000492.3(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.44T>C (p.Leu15Pro) rs1562876459
NM_000492.3(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.3(CFTR):c.489+2T>C rs397508732
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.489+8T>G rs727504712
NM_000492.3(CFTR):c.490-1G>A rs397508734
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+1G>T rs397508746
NM_000492.3(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) rs80282562
NM_000492.3(CFTR):c.535C>A (p.Gln179Lys) rs367850319
NM_000492.3(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000492.3(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.581G>T (p.Gly194Val) rs397508763
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.598T>A (p.Phe200Ile) rs397508766
NM_000492.3(CFTR):c.613C>T (p.Pro205Ser) rs121908803
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.663G>A (p.Ala221=) rs758147990
NM_000492.3(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.3(CFTR):c.739_742dup (p.Arg248fs) rs1057517342
NM_000492.3(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.3(CFTR):c.744-33GATT[5] rs1805171
NM_000492.3(CFTR):c.744-33GATT[8] 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.825C>G (p.Tyr275Ter) rs193922532
NM_000492.3(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.3(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.3(CFTR):c.853A>T (p.Ile285Phe) rs151073129
NM_000492.3(CFTR):c.859A>T (p.Asn287Tyr) rs397508804
NM_000492.3(CFTR):c.869+11C>T rs1800503
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000492.3(CFTR):c.870-1G>C rs1351058559
NM_000492.3(CFTR):c.870-7_870-5del rs759762840
NM_000492.3(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) rs121908768
NM_000492.3(CFTR):c.941G>A (p.Gly314Glu) rs75763344
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686
NM_000492.4(CFTR):c.147A>G (p.Leu49=)
NM_000492.4(CFTR):c.1518C>A (p.Ile506=)
Single allele

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