ClinVar Miner

Variants with conflicting interpretations studied for Cystic fibrosis

Coded as:
Minimum review status of the submission for Cystic fibrosis: Collection method of the submission for Cystic fibrosis:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
2712 1325 3 319 132 1 168 521

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.

All conditions
Cystic fibrosis pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele
pathogenic 0 264 95 6 7 0
likely pathogenic 269 0 127 5 4 0
uncertain significance 103 127 3 117 42 0
likely benign 6 5 117 0 52 1
benign 7 4 42 52 0 0
likely risk allele 0 0 0 1 0 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Cystic fibrosis 2720 1322 3 314 132 1 164 516
Cystic fibrosis; CFTR-related disorders 0 29 0 36 0 0 18 42
Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis 0 1 0 1 0 0 1 1

All variants with conflicting interpretations #

Total variants: 521
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_000492.4(CFTR):c.-812T>G rs181008242 0.00375
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445 0.00074
NM_000492.4(CFTR):c.1210-11_1210-10insG rs551227135 0.00072
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_000492.4(CFTR):c.3717+45G>A rs145743767 0.00058
NM_000492.4(CFTR):c.*2G>A rs150914702 0.00056
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_000492.3(CFTR):c.-448A>G rs943663200 0.00041
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu) rs145540754 0.00031
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000492.4(CFTR):c.1584+12T>C rs193922502 0.00028
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=) rs79688066 0.00025
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_000492.4(CFTR):c.3963+69A>G rs540577876 0.00019
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000492.4(CFTR):c.1679+16T>C rs397508262 0.00013
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=) rs148878126 0.00012
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.2620-97C>T rs146376436 0.00011
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro) rs565971160 0.00010
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=) rs55928397 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000492.4(CFTR):c.1679+18G>A rs369294289 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys) rs201591901 0.00006
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=) rs375845215 0.00006
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser) rs368393738 0.00006
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123 0.00006
NM_000492.4(CFTR):c.3964-16T>C rs199672530 0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) rs201295415 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val) rs397508553 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_000492.4(CFTR):c.3874-4A>G rs201381687 0.00005
NM_000492.4(CFTR):c.1679+9C>G rs775440240 0.00004
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu) rs397508332 0.00004
NM_000492.4(CFTR):c.2490+14G>T rs573016418 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.3964-28G>A rs397508651 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly) rs397508818 0.00004
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn) rs556880586 0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1585-19T>C rs778457306 0.00003
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln) rs121909044 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly) rs193922511 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000492.4(CFTR):c.53+4A>T rs372610364 0.00003
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) rs139573311 0.00002
NM_000492.4(CFTR):c.1405A>G (p.Met469Val) rs397508203 0.00002
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg) rs368516826 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly) rs397508270 0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn) rs397508300 0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328 0.00002
NM_000492.4(CFTR):c.2259C>T (p.Ser753=) rs201888075 0.00002
NM_000492.4(CFTR):c.2908+19G>C rs370683572 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=) rs200921635 0.00002
NM_000492.4(CFTR):c.3918C>G (p.Pro1306=) rs1800132 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_000492.4(CFTR):c.627A>G (p.Ala209=) rs397508773 0.00002
NM_000492.4(CFTR):c.869+8G>T rs773933167 0.00002
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg) rs397508154 0.00001
NM_000492.4(CFTR):c.1209+7A>T rs767301152 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) rs758900656 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr) rs397508222 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter) rs121908754 0.00001
NM_000492.4(CFTR):c.1585-7G>A rs1367201083 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.1587C>T (p.Asp529=) rs772895745 0.00001
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu) rs387906368 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256 0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 0.00001
NM_000492.4(CFTR):c.1830A>T (p.Leu610Phe) rs1048183757 0.00001
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr) rs201978662 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser) rs766541549 0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) rs374946172 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2505T>C (p.Asp835=) rs761043298 0.00001
NM_000492.4(CFTR):c.2526A>G (p.Ala842=) rs758128209 0.00001
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs) rs1057517068 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) rs369521395 0.00001
NM_000492.4(CFTR):c.273+4A>G rs387906374 0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.2835G>A (p.Ser945=) rs193922513 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu) rs397508467 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488 0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498 0.00001
NM_000492.4(CFTR):c.3139+8A>G rs193922517 0.00001
NM_000492.4(CFTR):c.3139_3139+1del rs397508505 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3368-20C>T rs761144879 0.00001
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=) rs144781064 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser) rs397508606 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.3874-14C>G rs184271150 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4143C>T (p.Tyr1381=) rs397508683 0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.4242+1G>T rs372227120 0.00001
NM_000492.4(CFTR):c.4243-2A>G rs397508705 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 0.00001
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn) rs983279303 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.579+34A>G rs148209839 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys) rs758012554 0.00001
NM_000492.4(CFTR):c.744-6T>G rs878854022 0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532 0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.869+25A>G rs1554380840 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000492.4(CFTR):c.94C>A (p.Leu32Met) rs776797377 0.00001
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1210-17_1210-12del rs3832534
NM_000492.3(CFTR):c.2909_2924dup
NM_000492.4(CFTR):c.-34C>T rs756314710
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro) rs397508146
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro) rs1562892293
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile) rs1800086
NM_000492.4(CFTR):c.1077A>G (p.Gln359=) rs761324191
NM_000492.4(CFTR):c.1117-5A>G rs397508161
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter) rs2115882158
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1140T>A (p.Tyr380Ter)
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.1209+18A>C rs193922499
NM_000492.4(CFTR):c.1209+1G>T rs397508176
NM_000492.4(CFTR):c.1209+80G>A rs948980243
NM_000492.4(CFTR):c.1209G>A (p.Glu403=) rs397508177
NM_000492.4(CFTR):c.1210-11_1210-9delinsG rs2115902456
NM_000492.4(CFTR):c.1210-13_1210-11del rs2115902247
NM_000492.4(CFTR):c.1210-13_1210-8del rs1399483116
NM_000492.4(CFTR):c.1210-15_1210-10del rs2115902212
NM_000492.4(CFTR):c.1210-15_1210-13delinsT rs1584793324
NM_000492.4(CFTR):c.1210-6dup rs1805177
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.4(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000492.4(CFTR):c.1278C>T (p.Asp426=) rs2896225
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1311T>C (p.Gly437=) rs1562895049
NM_000492.4(CFTR):c.1317T>G (p.Pro439=) rs1562895052
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro) rs397508188
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs) rs1562895066
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.4(CFTR):c.1373G>T (p.Gly458Val) rs121909009
NM_000492.4(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.4(CFTR):c.1392+1G>A rs397508197
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn) rs397508198
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) rs121908805
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.4(CFTR):c.1411A>T (p.Ile471Phe)
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys) rs756206533
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.4(CFTR):c.1446T>A (p.Ile482=) rs914422460
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
NM_000492.4(CFTR):c.1483del (p.Ser495fs)
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala) rs397508221
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter) rs1799425190
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr) rs1554384440
NM_000492.4(CFTR):c.1584+2T>C rs397508231
NM_000492.4(CFTR):c.1585-2A>G rs397508233
NM_000492.4(CFTR):c.1585-2A>T rs397508233
NM_000492.4(CFTR):c.1602A>G (p.Ala534=) rs1584810152
NM_000492.4(CFTR):c.164+1G>C rs397508243
NM_000492.4(CFTR):c.164+1G>T rs397508243
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.164+9A>T rs397508245
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.4(CFTR):c.1680-1G>C rs121908794
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.1680-883A>G rs1554388867
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter) rs121909025
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.1766+1G>T rs121908748
NM_000492.4(CFTR):c.1766+2T>A rs1554389062
NM_000492.4(CFTR):c.1766+2T>C rs1554389062
NM_000492.4(CFTR):c.1766+3A>C rs397508298
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro) rs1554389245
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe) rs397508306
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.4(CFTR):c.1826A>T (p.His609Leu) rs397508310
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter) rs1792036190
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter) rs1562907896
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser) rs1177201180
NM_000492.4(CFTR):c.2001C>T (p.His667=) rs772786141
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala) rs762888022
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter) rs397508333
NM_000492.4(CFTR):c.2044del (p.Thr682fs) rs1554389346
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu) rs397508338
NM_000492.4(CFTR):c.217del (p.Leu73fs) rs397508348
NM_000492.4(CFTR):c.2203del (p.Arg735fs) rs397508351
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs) rs1554389486
NM_000492.4(CFTR):c.2490+7A>G rs751864459
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.2562_2563delinsGA (p.Val855Ile) rs1584813846
NM_000492.4(CFTR):c.2587C>T (p.Leu863=)
NM_000492.4(CFTR):c.2620-12G>T
NM_000492.4(CFTR):c.2620-2A>G rs1554390859
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs) rs1554390864
NM_000492.4(CFTR):c.2657+17C>T rs368543375
NM_000492.4(CFTR):c.2658-1G>C rs397508416
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg) rs397508422
NM_000492.4(CFTR):c.273+3A>C rs74467662
NM_000492.4(CFTR):c.273+8T>A rs1189108407
NM_000492.4(CFTR):c.2739T>G (p.Tyr913Ter)
NM_000492.4(CFTR):c.274-1G>C rs121908792
NM_000492.4(CFTR):c.274-5_274-2del rs1584784850
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter) rs1408746819
NM_000492.4(CFTR):c.2762G>A (p.Gly921Glu) rs193922508
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp) rs397508432
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.4(CFTR):c.2816A>G (p.His939Arg) rs397508440
NM_000492.4(CFTR):c.2822del (p.Leu941fs) rs762844777
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile) rs151048781
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.4(CFTR):c.2907A>G (p.Ala969=)
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro) rs137975784
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val) rs397508462
NM_000492.4(CFTR):c.2948del (p.Leu983fs)
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr) rs397508468
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del) rs1562914072
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg) rs397508479
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs) rs1792366769
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.4(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser) rs397508491
NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu) rs1554392023
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del) rs1554392027
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg) rs756219310
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.3119T>C (p.Leu1040Pro)
NM_000492.4(CFTR):c.3140-11A>G
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg) rs121909036
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu) rs121909019
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg) rs79635528
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter) rs150020260
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg) rs36210737
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.4(CFTR):c.3324del (p.Ile1109fs) rs1554392282
NM_000492.4(CFTR):c.332del (p.Pro111fs) rs2116670123
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000492.4(CFTR):c.3367+1G>A rs1470125842
NM_000492.4(CFTR):c.3368-13del
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3368-2A>T rs755416052
NM_000492.4(CFTR):c.3368-4A>G rs748811222
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.4(CFTR):c.3465C>A (p.Ser1155Arg)
NM_000492.4(CFTR):c.3469-2A>G rs397508570
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.3495del (p.Lys1165fs) rs1057516970
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs) rs121908782
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs) rs1562919371
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.4(CFTR):c.3623del (p.Gly1208fs) rs35396083
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys) rs371475225
NM_000492.4(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter) rs121908766
NM_000492.4(CFTR):c.3717+14A>G
NM_000492.4(CFTR):c.3717+1G>A rs750558115
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3717+4A>G rs387906362
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3718-3T>G rs397508596
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.379T>C (p.Leu127=) rs2116670348
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.4(CFTR):c.3873+2T>C rs146795445
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.3874-27TTC[2] rs397508623
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter) rs397508645
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs) rs754392413
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro) rs397508653
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs) rs1057516457
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs) rs1554397497
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter) rs751098333
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.4(CFTR):c.4136+1G>A rs1562928997
NM_000492.4(CFTR):c.4136+5G>A rs1584849005
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.4(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer) rs397508693
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.4242+2T>C rs193922526
NM_000492.4(CFTR):c.4243-16A>G rs780125251
NM_000492.4(CFTR):c.4243-7del rs878854021
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter) rs397508707
NM_000492.4(CFTR):c.4266G>T (p.Arg1422=) rs545385510
NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter) rs1800135
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter) rs1800135
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter) rs750559671
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) rs397508709
NM_000492.4(CFTR):c.4327C>T (p.Pro1443Ser) rs1336644939
NM_000492.4(CFTR):c.4329del (p.Ser1444fs) rs1554397769
NM_000492.4(CFTR):c.4358G>A (p.Arg1453Gln)
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg) rs753173837
NM_000492.4(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.488A>T (p.Lys163Met) rs1562889435
NM_000492.4(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.4(CFTR):c.489+2T>C rs397508732
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser) rs397508736
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.53+2T>C
NM_000492.4(CFTR):c.53+9G>T rs745414764
NM_000492.4(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu) rs397508748
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys) rs397508755
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly) rs397508758
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.579+8C>A
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg) rs376008630
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg) rs397508769
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter) rs397508771
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu) rs397508784
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs) rs1057517342
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.4(CFTR):c.743+1G>C rs397508791
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.744-2A>G rs1057516646
NM_000492.4(CFTR):c.744-33GATT[5] rs1805171
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171
NM_000492.4(CFTR):c.772del (p.Arg258fs)
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg) rs397508796
NM_000492.4(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.4(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.4(CFTR):c.869+3A>T rs1554380828
NM_000492.4(CFTR):c.870-1113_870-1110del rs397508809
NM_000492.4(CFTR):c.927C>T (p.Ala309=) rs1800084
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.930del (p.Phe311fs) rs1584789226

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