ClinVar Miner

List of variants in gene CFTR reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 472
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HGVS dbSNP gnomAD frequency
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.2620-15C>G rs139379077 0.00212
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
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.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_000492.4(CFTR):c.1210-12_1210-11insG rs4148705 0.00039
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.846A>T (p.Glu282Asp) rs142864834 0.00025
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln) rs142540482 0.00022
NM_000492.4(CFTR):c.31G>A (p.Val11Ile) rs1800072 0.00019
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser) rs145900055 0.00019
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys) rs150691494 0.00019
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln) rs397508395 0.00013
NM_000492.4(CFTR):c.4184G>T (p.Cys1395Phe) rs1330281974 0.00013
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552 0.00012
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met) rs143860237 0.00011
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg) rs142432539 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.806T>C (p.Ile269Thr) rs201016820 0.00011
NM_000492.4(CFTR):c.2279C>T (p.Thr760Met) rs397508359 0.00010
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val) rs780187979 0.00010
NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro) rs565971160 0.00010
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) rs149353983 0.00010
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603 0.00009
NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr) rs143980575 0.00009
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=) rs55928397 0.00009
NM_000492.4(CFTR):c.2909-6T>C rs369612622 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp) rs397508814 0.00009
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe) rs143456784 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys) rs397508430 0.00008
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu) rs78742051 0.00007
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys) rs377731410 0.00006
NM_000492.4(CFTR):c.2145A>C (p.Gln715His) rs141235765 0.00006
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr) rs193922506 0.00006
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123 0.00006
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn) rs146947665 0.00006
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile) rs772774651 0.00006
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro) rs150177304 0.00006
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys) rs397508720 0.00006
NM_000492.4(CFTR):c.662C>T (p.Ala221Val) rs752432390 0.00006
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg) rs397508788 0.00006
NM_000492.4(CFTR):c.842T>C (p.Met281Thr) rs397508802 0.00006
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys) rs112162204 0.00006
NM_000492.4(CFTR):c.974A>G (p.Tyr325Cys) rs373998255 0.00006
NM_000492.4(CFTR):c.1209+12T>A rs748021847 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg) rs375325315 0.00005
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) rs201295415 0.00005
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr) rs201444561 0.00005
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val) rs148604667 0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val) rs397508553 0.00005
NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg) rs200899224 0.00004
NM_000492.4(CFTR):c.1680-6T>G rs949851823 0.00004
NM_000492.4(CFTR):c.1718C>T (p.Ser573Phe) rs772223589 0.00004
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu) rs397508332 0.00004
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln) rs369040061 0.00004
NM_000492.4(CFTR):c.2490+14G>T rs573016418 0.00004
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile) rs397508397 0.00004
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994 0.00004
NM_000492.4(CFTR):c.355A>G (p.Ile119Val) rs193922518 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000492.4(CFTR):c.4096A>T (p.Ile1366Phe) rs770345073 0.00004
NM_000492.4(CFTR):c.454A>T (p.Met152Leu) rs397508721 0.00004
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala) rs200885306 0.00004
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu) rs775701644 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.1231A>G (p.Lys411Glu) rs748155731 0.00003
NM_000492.4(CFTR):c.1247A>G (p.Asn416Ser) rs777850419 0.00003
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser) rs397508185 0.00003
NM_000492.4(CFTR):c.1429C>T (p.Pro477Ser) rs139054556 0.00003
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr) rs397508210 0.00003
NM_000492.4(CFTR):c.1766G>C (p.Ser589Thr) rs397508300 0.00003
NM_000492.4(CFTR):c.1951G>A (p.Asp651Asn) rs780526529 0.00003
NM_000492.4(CFTR):c.204A>T (p.Lys68Asn) rs397508335 0.00003
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly) rs145449046 0.00003
NM_000492.4(CFTR):c.2392C>T (p.Pro798Ser) rs138069616 0.00003
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys) rs397508381 0.00003
NM_000492.4(CFTR):c.250T>C (p.Tyr84His) rs745756794 0.00003
NM_000492.4(CFTR):c.2540A>G (p.Asn847Ser) rs562851847 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000492.4(CFTR):c.2836A>G (p.Lys946Glu) rs397508443 0.00003
NM_000492.4(CFTR):c.2895C>A (p.Asn965Lys) rs779569793 0.00003
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu) rs373561883 0.00003
NM_000492.4(CFTR):c.3473G>A (p.Arg1158Gln) rs763401376 0.00003
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys) rs377295859 0.00003
NM_000492.4(CFTR):c.3767C>T (p.Ala1256Val) rs773852510 0.00003
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile) rs769931559 0.00003
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe) rs145545286 0.00003
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser) rs368427311 0.00003
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val) rs397508670 0.00003
NM_000492.4(CFTR):c.489+8T>G rs727504712 0.00003
NM_000492.4(CFTR):c.561C>A (p.Asn187Lys) rs397508754 0.00003
NM_000492.4(CFTR):c.610G>A (p.Ala204Thr) rs748026786 0.00003
NM_000492.4(CFTR):c.674G>A (p.Cys225Tyr) rs866473559 0.00003
NM_000492.4(CFTR):c.697C>G (p.Leu233Val) rs775713428 0.00003
NM_000492.4(CFTR):c.837A>T (p.Glu279Asp) rs773509355 0.00003
NM_000492.4(CFTR):c.127G>A (p.Val43Ile) rs370586917 0.00002
NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys) rs138427145 0.00002
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg) rs368516826 0.00002
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly) rs374453187 0.00002
NM_000492.4(CFTR):c.1680-13A>G rs757981933 0.00002
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly) rs397508270 0.00002
NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys) rs755986694 0.00002
NM_000492.4(CFTR):c.2490+5G>T rs764466147 0.00002
NM_000492.4(CFTR):c.2629T>G (p.Ser877Ala) rs761531223 0.00002
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile) rs752617117 0.00002
NM_000492.4(CFTR):c.2713G>C (p.Val905Leu) rs886186687 0.00002
NM_000492.4(CFTR):c.2878C>T (p.Pro960Ser) rs185397588 0.00002
NM_000492.4(CFTR):c.2908+19G>C rs370683572 0.00002
NM_000492.4(CFTR):c.3503A>G (p.Asp1168Gly) rs150326506 0.00002
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val) rs749662161 0.00002
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu) rs752834717 0.00002
NM_000492.4(CFTR):c.3983T>C (p.Ile1328Thr) rs115762793 0.00002
NM_000492.4(CFTR):c.4027G>A (p.Gly1343Ser) rs747324955 0.00002
NM_000492.4(CFTR):c.4045G>A (p.Gly1349Ser) rs201686600 0.00002
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys) rs367850319 0.00002
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu) rs759726535 0.00002
NM_000492.4(CFTR):c.869+8G>T rs773933167 0.00002
NM_000492.4(CFTR):c.964G>A (p.Val322Met) rs1800085 0.00002
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe) rs193922533 0.00002
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys) rs397508147 0.00001
NM_000492.4(CFTR):c.1133A>G (p.Gln378Arg) rs768589673 0.00001
NM_000492.4(CFTR):c.1209+6A>G rs749054857 0.00001
NM_000492.4(CFTR):c.1209+7A>T rs767301152 0.00001
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys) rs766063304 0.00001
NM_000492.4(CFTR):c.1343T>C (p.Ile448Thr) rs748642635 0.00001
NM_000492.4(CFTR):c.1407G>T (p.Met469Ile) rs143218779 0.00001
NM_000492.4(CFTR):c.142A>C (p.Asn48His) rs1248202161 0.00001
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp) rs754152822 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr) rs397508220 0.00001
NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys) rs1554384431 0.00001
NM_000492.4(CFTR):c.1811C>G (p.Thr604Ser) rs397508308 0.00001
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln) rs397508342 0.00001
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val) rs200531709 0.00001
NM_000492.4(CFTR):c.2291G>A (p.Arg764Gln) rs1417904716 0.00001
NM_000492.4(CFTR):c.2327C>T (p.Ser776Leu) rs397508365 0.00001
NM_000492.4(CFTR):c.2406G>C (p.Leu802Phe) rs1314080734 0.00001
NM_000492.4(CFTR):c.2410G>A (p.Glu804Lys) rs1792049376 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly) rs377447726 0.00001
NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser) rs778688276 0.00001
NM_000492.4(CFTR):c.2469A>T (p.Glu823Asp) rs777667933 0.00001
NM_000492.4(CFTR):c.2526A>G (p.Ala842=) rs758128209 0.00001
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser) rs1310658028 0.00001
NM_000492.4(CFTR):c.2619+17G>T rs1439697748 0.00001
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val) rs1472821278 0.00001
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys) rs397508418 0.00001
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly) rs766181463 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.274-13T>C rs1021474992 0.00001
NM_000492.4(CFTR):c.2806C>A (p.Pro936Thr) rs780528577 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.2876C>T (p.Ala959Val) rs397508448 0.00001
NM_000492.4(CFTR):c.2908+4C>A rs372266030 0.00001
NM_000492.4(CFTR):c.2909-99del rs1213436263 0.00001
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met) rs748430234 0.00001
NM_000492.4(CFTR):c.2973A>G (p.Ile991Met) rs370181570 0.00001
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys) rs397508469 0.00001
NM_000492.4(CFTR):c.2988+13A>T rs1182945291 0.00001
NM_000492.4(CFTR):c.2988+20G>A rs183819332 0.00001
NM_000492.4(CFTR):c.3368-20C>T rs761144879 0.00001
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu) rs1434504483 0.00001
NM_000492.4(CFTR):c.3382A>G (p.Arg1128Gly) rs397508549 0.00001
NM_000492.4(CFTR):c.3391A>G (p.Ile1131Val) rs755472768 0.00001
NM_000492.4(CFTR):c.3406G>A (p.Ala1136Thr) rs755968404 0.00001
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val) rs1562916044 0.00001
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys) rs397508565 0.00001
NM_000492.4(CFTR):c.3468+6T>C rs547442588 0.00001
NM_000492.4(CFTR):c.3562T>C (p.Ser1188Pro) rs762167681 0.00001
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val) rs75647395 0.00001
NM_000492.4(CFTR):c.3674C>T (p.Ala1225Val) rs770358073 0.00001
NM_000492.4(CFTR):c.3713A>G (p.Gln1238Arg) rs397508594 0.00001
NM_000492.4(CFTR):c.3763T>A (p.Ser1255Thr) rs121909041 0.00001
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser) rs397508606 0.00001
NM_000492.4(CFTR):c.3803A>G (p.Gln1268Arg) rs766370233 0.00001
NM_000492.4(CFTR):c.3868C>A (p.Pro1290Thr) rs397508619 0.00001
NM_000492.4(CFTR):c.3925C>G (p.Gln1309Glu) rs193922732 0.00001
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly) rs397508646 0.00001
NM_000492.4(CFTR):c.3963+6G>T rs1793110791 0.00001
NM_000492.4(CFTR):c.4028G>T (p.Gly1343Val) rs773458471 0.00001
NM_000492.4(CFTR):c.4033G>A (p.Val1345Ile) rs1371379517 0.00001
NM_000492.4(CFTR):c.4048C>T (p.His1350Tyr) rs955306189 0.00001
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe) rs755028771 0.00001
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu) rs397508673 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4115C>T (p.Pro1372Leu) rs397508677 0.00001
NM_000492.4(CFTR):c.4136+52del rs779110970 0.00001
NM_000492.4(CFTR):c.4137-7T>C rs1400171855 0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692 0.00001
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly) rs970498675 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.4237T>C (p.Phe1413Leu) rs142092183 0.00001
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr) rs397508725 0.00001
NM_000492.4(CFTR):c.529A>T (p.Ile177Phe) rs1267579802 0.00001
NM_000492.4(CFTR):c.530T>C (p.Ile177Thr) rs397508747 0.00001
NM_000492.4(CFTR):c.538C>G (p.Leu180Val) rs374163420 0.00001
NM_000492.4(CFTR):c.579+4del rs745591601 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser) rs397508772 0.00001
NM_000492.4(CFTR):c.721G>A (p.Gly241Arg) rs397508789 0.00001
NM_000492.4(CFTR):c.773G>T (p.Arg258Ile) rs377514639 0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.869+14A>G rs1554380834 0.00001
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr) rs148013312 0.00001
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser) rs760319837 0.00001
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe) rs56093012 0.00001
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg) rs141115171 0.00001
NM_000492.4(CFTR):c.992T>A (p.Ile331Asn) rs397508825 0.00001
NC_000007.13:g.(117149197_117170952)_(117171169_117174329)dup
NC_000007.13:g.(117171169_117174329)_(117174420_117175301)dup
NC_000007.13:g.(117175466_117176601)_(117176728_117180153)dup
NC_000007.13:g.(117180401_117182069)_(117182163_117188694)dup
NC_000007.13:g.(117182163_117188694)_(117188878_117199517)dup
NC_000007.13:g.(117188878_117199517)_(117199710_117227792)dup
NC_000007.13:g.(117227888_117230406)_(117230494_117231987)dup
NC_000007.13:g.(117232712_117234983)_(117235113_117242879)dup
NC_000007.13:g.(117250724_117251634)_(117251863_117254666)dup
NC_000007.13:g.(117267825_117282491)_(117282648_117292895)dup
NC_000007.13:g.(117282648_117292895)_(117292986_117304741)dup
NC_000007.13:g.(117292986_117304741)_(117308720_?)dup
NC_000007.13:g.(117305619_117306961)_(117308720_?)dup
NC_000007.13:g.(?_117120016)_(117308720_?)dup
NC_000007.13:g.(?_117120078)_(117120202_117144306)dup
NM_000492.3(CFTR):c.3376_3381delGAAGGA rs1554392764
NM_000492.3(CFTR):c.[1210-16_1210-13dup;1210-6delT]
NM_000492.4(CFTR):c.1019T>A (p.Ile340Asn) rs1554381352
NM_000492.4(CFTR):c.1027T>C (p.Cys343Arg) rs2116684275
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.1059A>C (p.Gln353His) rs1800087
NM_000492.4(CFTR):c.1070C>T (p.Ala357Val)
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys) rs76879328
NM_000492.4(CFTR):c.1076A>G (p.Gln359Arg) rs397508153
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys) rs75053309
NM_000492.4(CFTR):c.1090T>C (p.Ser364Pro) rs78909279
NM_000492.4(CFTR):c.1116+6G>A
NM_000492.4(CFTR):c.1117-135del rs992074991
NM_000492.4(CFTR):c.1117-136_1117-132del
NM_000492.4(CFTR):c.1119T>G (p.Asp373Glu)
NM_000492.4(CFTR):c.112T>C (p.Tyr38His)
NM_000492.4(CFTR):c.1163C>A (p.Thr388Lys)
NM_000492.4(CFTR):c.1175T>C (p.Val392Ala) rs397508170
NM_000492.4(CFTR):c.1177G>C (p.Val393Leu) rs1562892874
NM_000492.4(CFTR):c.117A>T (p.Gln39His) rs764522674
NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr) rs1396443734
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val) rs146463120
NM_000492.4(CFTR):c.1209+18A>C rs193922499
NM_000492.4(CFTR):c.1210-15G>A rs947648829
NM_000492.4(CFTR):c.1210-6del rs1805177
NM_000492.4(CFTR):c.1211G>T (p.Gly404Val) rs1324302547
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val) rs397508180
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.4(CFTR):c.128T>C (p.Val43Ala)
NM_000492.4(CFTR):c.1291A>G (p.Ser431Gly)
NM_000492.4(CFTR):c.1300T>C (p.Ser434Pro) rs1799212931
NM_000492.4(CFTR):c.1307T>C (p.Leu436Pro) rs1554382639
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.4(CFTR):c.134C>G (p.Ser45Cys) rs1798380222
NM_000492.4(CFTR):c.1351G>A (p.Gly451Arg)
NM_000492.4(CFTR):c.1357TTG[1] (p.Leu454del) rs397508194
NM_000492.4(CFTR):c.1360_1365delinsGCT (p.Leu454del)
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.4(CFTR):c.1385C>G (p.Ala462Gly) rs1422519885
NM_000492.4(CFTR):c.1430C>T (p.Pro477Leu) rs886044297
NM_000492.4(CFTR):c.1451A>G (p.His484Arg) rs1427892651
NM_000492.4(CFTR):c.1472G>C (p.Cys491Ser)
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe) rs778205742
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro) rs397508214
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg) rs1554384382
NM_000492.4(CFTR):c.1492A>G (p.Met498Val) rs1562898400
NM_000492.4(CFTR):c.1495C>G (p.Pro499Ala) rs397508219
NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser) rs397508219
NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser) rs397508224
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly) rs397508226
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.1564A>G (p.Lys522Glu) rs1483458563
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr) rs1554384440
NM_000492.4(CFTR):c.1583A>G (p.Glu528Gly) rs1562898548
NM_000492.4(CFTR):c.1584G>C (p.Glu528Asp)
NM_000492.4(CFTR):c.164+3A>G
NM_000492.4(CFTR):c.164+4T>A
NM_000492.4(CFTR):c.164+9A>T rs397508245
NM_000492.4(CFTR):c.164G>T (p.Arg55Ile)
NM_000492.4(CFTR):c.1680-853del rs2116023034
NM_000492.4(CFTR):c.1680-877G>A rs397508261
NM_000492.4(CFTR):c.1680-893T>C rs1223503684
NM_000492.4(CFTR):c.1681G>A (p.Ala561Thr) rs1226880376
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.4(CFTR):c.1696G>A (p.Ala566Thr) rs397508271
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe) rs397508275
NM_000492.4(CFTR):c.1718C>G (p.Ser573Cys)
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser) rs397508292
NM_000492.4(CFTR):c.1756A>G (p.Ile586Val)
NM_000492.4(CFTR):c.1775G>A (p.Cys592Tyr)
NM_000492.4(CFTR):c.1783A>G (p.Met595Val) rs750140050
NM_000492.4(CFTR):c.1858C>T (p.His620Tyr)
NM_000492.4(CFTR):c.1872C>A (p.Ser624Arg)
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile) rs397508317
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu) rs200204024
NM_000492.4(CFTR):c.2014G>A (p.Glu672Lys)
NM_000492.4(CFTR):c.2052A>C (p.Lys684Asn) rs750642366
NM_000492.4(CFTR):c.2125C>G (p.Arg709Gly) rs121908760
NM_000492.4(CFTR):c.212A>G (p.Asn71Ser) rs1003610229
NM_000492.4(CFTR):c.2194T>G (p.Leu732Val) rs2116032346
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu) rs1800076
NM_000492.4(CFTR):c.226T>C (p.Cys76Arg)
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp) rs777536750
NM_000492.4(CFTR):c.2346C>A (p.Asn782Lys) rs397508369
NM_000492.4(CFTR):c.2373_2377delinsCC (p.Arg792_Lys793delinsGln)
NM_000492.4(CFTR):c.2402A>G (p.Asn801Ser) rs1562908192
NM_000492.4(CFTR):c.2407A>T (p.Thr803Ser) rs1792049314
NM_000492.4(CFTR):c.2419A>G (p.Ile807Val)
NM_000492.4(CFTR):c.2437T>C (p.Ser813Pro)
NM_000492.4(CFTR):c.2490+11A>G rs1482271794
NM_000492.4(CFTR):c.2490+19G>C rs368353825
NM_000492.4(CFTR):c.2493G>T (p.Glu831Asp) rs1301647941
NM_000492.4(CFTR):c.2519T>C (p.Ile840Thr)
NM_000492.4(CFTR):c.251A>G (p.Tyr84Cys)
NM_000492.4(CFTR):c.2531C>T (p.Thr844Ile) rs1792097477
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe) rs780187979
NM_000492.4(CFTR):c.2619+3A>G rs397508408
NM_000492.4(CFTR):c.2620-26_2620-25insG rs776600589
NM_000492.4(CFTR):c.2657+12A>G rs1792246845
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg) rs397508417
NM_000492.4(CFTR):c.2681A>G (p.Asn894Ser)
NM_000492.4(CFTR):c.273+10240A>G
NM_000492.4(CFTR):c.273+10255del rs193922507
NM_000492.4(CFTR):c.273+8T>A rs1189108407
NM_000492.4(CFTR):c.2733T>G (p.Ser911Arg) rs1562911534
NM_000492.4(CFTR):c.2734T>A (p.Ser912Thr) rs1554390984
NM_000492.4(CFTR):c.2752A>G (p.Ile918Val) rs1267646551
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu) rs373885282
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.2777T>C (p.Leu926Ser) rs757410423
NM_000492.4(CFTR):c.2812G>T (p.Val938Leu) rs749784731
NM_000492.4(CFTR):c.2845C>T (p.His949Tyr) rs121909035
NM_000492.4(CFTR):c.2875G>A (p.Ala959Thr)
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe) rs397508459
NM_000492.4(CFTR):c.2936A>G (p.Asp979Gly) rs397508462
NM_000492.4(CFTR):c.2938A>G (p.Ile980Val) rs1554391473
NM_000492.4(CFTR):c.2971A>G (p.Ile991Val)
NM_000492.4(CFTR):c.2976T>A (p.Phe992Leu) rs758250836
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr) rs397508468
NM_000492.4(CFTR):c.2978A>G (p.Asp993Gly)
NM_000492.4(CFTR):c.2988+3A>G rs2116069964
NM_000492.4(CFTR):c.2988+47dup rs149902649
NM_000492.4(CFTR):c.2988+4T>C
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn) rs762241850
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.3368-78dup
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del) rs397508548
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala) rs397508550
NM_000492.4(CFTR):c.340_342del (p.Lys114del) rs1554379808
NM_000492.4(CFTR):c.3457G>C (p.Val1153Leu)
NM_000492.4(CFTR):c.3461A>G (p.Asp1154Gly) rs397508569
NM_000492.4(CFTR):c.3469-3C>A
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.4(CFTR):c.3530A>G (p.Lys1177Arg)
NM_000492.4(CFTR):c.3551A>T (p.Asn1184Ile)
NM_000492.4(CFTR):c.3577A>G (p.Ile1193Val) rs1562919375
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu) rs765133036
NM_000492.4(CFTR):c.3601G>T (p.Asp1201Tyr) rs1182767623
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys) rs371475225
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser) rs397508593
NM_000492.4(CFTR):c.3682G>A (p.Glu1228Lys) rs759116351
NM_000492.4(CFTR):c.3683A>G (p.Glu1228Gly)
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu) rs76649725
NM_000492.4(CFTR):c.3797A>G (p.Glu1266Gly)
NM_000492.4(CFTR):c.3809A>G (p.Asp1270Gly)
NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser) rs1792935893
NM_000492.4(CFTR):c.3851A>G (p.Lys1284Arg) rs2116167703
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.4(CFTR):c.3857T>G (p.Phe1286Cys) rs121909028
NM_000492.4(CFTR):c.3859G>A (p.Gly1287Arg) rs1792936385
NM_000492.4(CFTR):c.3862G>A (p.Val1288Met)
NM_000492.4(CFTR):c.3873+28dup
NM_000492.4(CFTR):c.3873+5G>A
NM_000492.4(CFTR):c.3874-103del rs1282290289
NM_000492.4(CFTR):c.3893G>C (p.Gly1298Ala) rs193922522
NM_000492.4(CFTR):c.3898T>C (p.Phe1300Leu)
NM_000492.4(CFTR):c.3908A>C (p.Asn1303Thr) rs397508636
NM_000492.4(CFTR):c.3915T>A (p.Asp1305Glu) rs397508640
NM_000492.4(CFTR):c.3937C>A (p.Gln1313Lys) rs121909026
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met) rs1554396417
NM_000492.4(CFTR):c.3946T>C (p.Trp1316Arg)
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala) rs397508648
NM_000492.4(CFTR):c.3963+15T>C rs1269502695
NM_000492.4(CFTR):c.3963+5G>C
NM_000492.4(CFTR):c.3964-18_3964-16delinsCAG
NM_000492.4(CFTR):c.3964-3C>A
NM_000492.4(CFTR):c.3970C>T (p.Leu1324Phe)
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val) rs397508659
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe) rs397508660
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn) rs763602969
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.4061T>C (p.Met1354Thr) rs755993775
NM_000492.4(CFTR):c.4085G>A (p.Ser1362Asn) rs777892053
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.4114C>A (p.Pro1372Thr) rs397508676
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly) rs115147093
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.4(CFTR):c.4136+14G>A rs1389376517
NM_000492.4(CFTR):c.4137-9C>T rs1562929122
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His) rs397508682
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala)
NM_000492.4(CFTR):c.4242+19A>C rs1554397608
NM_000492.4(CFTR):c.4242+20C>T rs1229413013
NM_000492.4(CFTR):c.4242+5G>A rs1562929196
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly) rs1554379882
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.482A>G (p.Tyr161Cys) rs397508730
NM_000492.4(CFTR):c.489+4A>G
NM_000492.4(CFTR):c.489+8T>C rs727504712
NM_000492.4(CFTR):c.489G>A (p.Lys163=) rs397508733
NM_000492.4(CFTR):c.490A>C (p.Thr164Pro)
NM_000492.4(CFTR):c.495A>C (p.Leu165Phe) rs2116674883
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.4(CFTR):c.52A>G (p.Ser18Gly)
NM_000492.4(CFTR):c.53+34_53+35del rs762372419
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.560A>G (p.Asn187Ser)
NM_000492.4(CFTR):c.563T>C (p.Leu188Pro) rs766640075
NM_000492.4(CFTR):c.575A>T (p.Asp192Val) rs397508758
NM_000492.4(CFTR):c.579+4T>C
NM_000492.4(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.4(CFTR):c.592G>C (p.Ala198Pro) rs193922529
NM_000492.4(CFTR):c.593C>T (p.Ala198Val) rs73215910
NM_000492.4(CFTR):c.5A>C (p.Gln2Pro) rs1797976959
NM_000492.4(CFTR):c.610G>T (p.Ala204Ser) rs748026786
NM_000492.4(CFTR):c.711G>C (p.Gln237His) rs397508785
NM_000492.4(CFTR):c.712G>C (p.Ala238Pro) rs1413926814
NM_000492.4(CFTR):c.713C>T (p.Ala238Val) rs397508786
NM_000492.4(CFTR):c.743+4G>T rs193922530
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.744-11T>C rs1554380747
NM_000492.4(CFTR):c.744-34A>T rs897890349
NM_000492.4(CFTR):c.757G>A (p.Gly253Arg) rs1343896905
NM_000492.4(CFTR):c.796A>G (p.Ile266Val)
NM_000492.4(CFTR):c.80G>T (p.Gly27Val) rs397508797
NM_000492.4(CFTR):c.869+3A>C rs1554380828
NM_000492.4(CFTR):c.870-3T>G rs397508810
NM_000492.4(CFTR):c.870-4A>G rs755173693
NM_000492.4(CFTR):c.870-7_870-5del rs759762840
NM_000492.4(CFTR):c.914T>G (p.Phe305Cys) rs1562892143
NM_000492.4(CFTR):c.92G>A (p.Arg31His) rs149353983
NM_000492.4(CFTR):c.947T>A (p.Phe316Tyr) rs779201407
NM_000492.4(CFTR):c.950T>C (p.Val317Ala) rs1204521684
NM_000492.4(CFTR):c.[220C>T;3808G>A]

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