ClinVar Miner

List of variants in gene CFTR reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 551
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000492.4(CFTR):c.1210-15del rs371831442 0.00192
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.853A>T (p.Ile285Phe) rs151073129 0.00145
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.2620-26A>G rs201716473 0.00108
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
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.2245C>T (p.Leu749=) rs151235408 0.00056
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
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.2424T>C (p.Tyr808=) rs143954792 0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=) rs148878126 0.00012
NM_000492.4(CFTR):c.738G>A (p.Lys246=) rs35033453 0.00011
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=) rs146804928 0.00009
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000492.4(CFTR):c.4224G>A (p.Leu1408=) rs1800134 0.00007
NM_000492.4(CFTR):c.2604A>G (p.Val868=) rs1800105 0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 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.3783G>T (p.Leu1261=) rs771812900 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 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.2475C>T (p.Asn825=) rs746961486 0.00005
NM_000492.4(CFTR):c.510T>A (p.Arg170=) rs780772620 0.00005
NM_000492.4(CFTR):c.66A>G (p.Pro22=) rs748899228 0.00005
NM_000492.4(CFTR):c.1227T>C (p.Phe409=) rs778548877 0.00004
NM_000492.4(CFTR):c.2052A>G (p.Lys684=) rs750642366 0.00004
NM_000492.4(CFTR):c.2490+14G>T rs573016418 0.00004
NM_000492.4(CFTR):c.2805A>G (p.Leu935=) rs368967922 0.00004
NM_000492.4(CFTR):c.2832G>A (p.Val944=) rs193922512 0.00004
NM_000492.4(CFTR):c.393T>C (p.Phe131=) rs1039221071 0.00004
NM_000492.4(CFTR):c.4206C>T (p.His1402=) rs368044495 0.00004
NM_000492.4(CFTR):c.1047G>A (p.Ala349=) rs200520623 0.00003
NM_000492.4(CFTR):c.1086T>C (p.Tyr362=) rs397508155 0.00003
NM_000492.4(CFTR):c.1164G>A (p.Thr388=) rs1800088 0.00003
NM_000492.4(CFTR):c.147A>G (p.Leu49=) rs140444668 0.00003
NM_000492.4(CFTR):c.1500C>A (p.Gly500=) rs762619288 0.00003
NM_000492.4(CFTR):c.1734A>G (p.Leu578=) rs201025424 0.00003
NM_000492.4(CFTR):c.1932C>G (p.Leu644=) rs779674687 0.00003
NM_000492.4(CFTR):c.2703C>T (p.Asn901=) rs764201518 0.00003
NM_000492.4(CFTR):c.2736G>A (p.Ser912=) rs200901072 0.00003
NM_000492.4(CFTR):c.274-8T>C rs1186141962 0.00003
NM_000492.4(CFTR):c.4182T>C (p.Asp1394=) rs763937782 0.00003
NM_000492.4(CFTR):c.53+4A>T rs372610364 0.00003
NM_000492.4(CFTR):c.1050C>G (p.Val350=) rs1038437842 0.00002
NM_000492.4(CFTR):c.1287C>T (p.Phe429=) rs763577850 0.00002
NM_000492.4(CFTR):c.1290C>T (p.Phe430=) rs764640445 0.00002
NM_000492.4(CFTR):c.1518C>A (p.Ile506=) rs1800092 0.00002
NM_000492.4(CFTR):c.2016A>G (p.Glu672=) rs1312105870 0.00002
NM_000492.4(CFTR):c.2184T>G (p.Ser728=) rs779304728 0.00002
NM_000492.4(CFTR):c.2241G>A (p.Ala747=) rs146645194 0.00002
NM_000492.4(CFTR):c.2259C>T (p.Ser753=) rs201888075 0.00002
NM_000492.4(CFTR):c.2262G>C (p.Val754=) rs1201012182 0.00002
NM_000492.4(CFTR):c.2322A>T (p.Thr774=) rs778581398 0.00002
NM_000492.4(CFTR):c.2373A>G (p.Thr791=) rs202115503 0.00002
NM_000492.4(CFTR):c.2568C>T (p.His856=) rs761255045 0.00002
NM_000492.4(CFTR):c.3627A>G (p.Gln1209=) rs770069168 0.00002
NM_000492.4(CFTR):c.3723C>A (p.Gly1241=) rs185065886 0.00002
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=) rs547248892 0.00002
NM_000492.4(CFTR):c.3918C>G (p.Pro1306=) rs1800132 0.00002
NM_000492.4(CFTR):c.417C>T (p.His139=) rs760281820 0.00002
NM_000492.4(CFTR):c.589T>C (p.Leu197=) rs755619078 0.00002
NM_000492.4(CFTR):c.609C>T (p.Ile203=) rs1800081 0.00002
NM_000492.4(CFTR):c.627A>G (p.Ala209=) rs397508773 0.00002
NM_000492.4(CFTR):c.810A>G (p.Gln270=) rs767312350 0.00002
NM_000492.4(CFTR):c.869+8G>T rs773933167 0.00002
NM_000492.4(CFTR):c.1026C>T (p.Phe342=) rs928312842 0.00001
NM_000492.4(CFTR):c.1036C>T (p.Leu346=) rs575762281 0.00001
NM_000492.4(CFTR):c.1392+12G>T rs2896226 0.00001
NM_000492.4(CFTR):c.1393-13G>A rs779389972 0.00001
NM_000492.4(CFTR):c.1545T>C (p.Tyr515=) rs747504631 0.00001
NM_000492.4(CFTR):c.1557C>T (p.Ser519=) rs757736710 0.00001
NM_000492.4(CFTR):c.15T>C (p.Pro5=) rs751475070 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.1707T>C (p.Tyr569=) rs397508278 0.00001
NM_000492.4(CFTR):c.1770T>C (p.Cys590=) rs1277496713 0.00001
NM_000492.4(CFTR):c.1926A>C (p.Ser642=) rs1554389299 0.00001
NM_000492.4(CFTR):c.2028T>C (p.Pro676=) rs751504707 0.00001
NM_000492.4(CFTR):c.2055A>G (p.Gln685=) rs1457520634 0.00001
NM_000492.4(CFTR):c.2112A>G (p.Pro704=) rs926782023 0.00001
NM_000492.4(CFTR):c.2142G>T (p.Val714=) rs1216958032 0.00001
NM_000492.4(CFTR):c.222G>A (p.Arg74=) rs1562884025 0.00001
NM_000492.4(CFTR):c.2253C>T (p.Arg751=) rs760893687 0.00001
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser) rs766541549 0.00001
NM_000492.4(CFTR):c.2280G>A (p.Thr760=) rs138634146 0.00001
NM_000492.4(CFTR):c.2391C>T (p.Ala797=) rs773521854 0.00001
NM_000492.4(CFTR):c.2442A>G (p.Gln814=) rs1366393014 0.00001
NM_000492.4(CFTR):c.2460A>T (p.Ile820=) rs369664216 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.2544A>T (p.Thr848=) rs751242146 0.00001
NM_000492.4(CFTR):c.2565C>A (p.Val855=) rs1233428222 0.00001
NM_000492.4(CFTR):c.258C>A (p.Ile86=) rs374992300 0.00001
NM_000492.4(CFTR):c.2619+17G>T rs1439697748 0.00001
NM_000492.4(CFTR):c.2691T>C (p.His897=) rs1792257064 0.00001
NM_000492.4(CFTR):c.274-13T>C rs1021474992 0.00001
NM_000492.4(CFTR):c.2742T>C (p.Tyr914=) rs769879940 0.00001
NM_000492.4(CFTR):c.2751C>T (p.Tyr917=) rs1274886789 0.00001
NM_000492.4(CFTR):c.2757C>T (p.Tyr919=) rs1408746819 0.00001
NM_000492.4(CFTR):c.2766A>G (p.Val922=) rs762906556 0.00001
NM_000492.4(CFTR):c.27C>T (p.Ala9=) rs1255831708 0.00001
NM_000492.4(CFTR):c.2808A>G (p.Pro936=) rs397508438 0.00001
NM_000492.4(CFTR):c.2835G>A (p.Ser945=) rs193922513 0.00001
NM_000492.4(CFTR):c.2931C>T (p.Ser977=) rs1333735364 0.00001
NM_000492.4(CFTR):c.294G>A (p.Gln98=) rs1225964754 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.300C>G (p.Leu100=) rs1206224160 0.00001
NM_000492.4(CFTR):c.333G>A (p.Pro111=) rs776878618 0.00001
NM_000492.4(CFTR):c.3368-20C>T rs761144879 0.00001
NM_000492.4(CFTR):c.3441A>G (p.Val1147=) rs375687401 0.00001
NM_000492.4(CFTR):c.357C>T (p.Ile119=) rs1264742569 0.00001
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=) rs759202870 0.00001
NM_000492.4(CFTR):c.3591C>T (p.His1197=) rs1393226501 0.00001
NM_000492.4(CFTR):c.3603T>C (p.Asp1201=) rs1399548884 0.00001
NM_000492.4(CFTR):c.3681A>G (p.Leu1227=) rs943312470 0.00001
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=) rs117400534 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000492.4(CFTR):c.3780A>G (p.Leu1260=) rs112339787 0.00001
NM_000492.4(CFTR):c.3903A>G (p.Arg1301=) rs774683612 0.00001
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=) rs886061952 0.00001
NM_000492.4(CFTR):c.406C>T (p.Leu136=) rs1351515691 0.00001
NM_000492.4(CFTR):c.4095G>A (p.Lys1365=) rs759891255 0.00001
NM_000492.4(CFTR):c.4107T>C (p.Leu1369=) rs772750690 0.00001
NM_000492.4(CFTR):c.4110T>C (p.Asp1370=) rs1793345654 0.00001
NM_000492.4(CFTR):c.4143C>T (p.Tyr1381=) rs397508683 0.00001
NM_000492.4(CFTR):c.4242+8T>C rs1258671235 0.00001
NM_000492.4(CFTR):c.475T>C (p.Leu159=) rs769183771 0.00001
NM_000492.4(CFTR):c.537A>G (p.Gln179=) rs991635265 0.00001
NM_000492.4(CFTR):c.588A>G (p.Ala196=) rs749896021 0.00001
NM_000492.4(CFTR):c.640C>T (p.Leu214=) rs188457893 0.00001
NM_000492.4(CFTR):c.720A>G (p.Leu240=) rs1344097861 0.00001
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys) rs758012554 0.00001
NM_000492.4(CFTR):c.801A>G (p.Glu267=) rs1394905892 0.00001
NM_000492.4(CFTR):c.900C>A (p.Ala300=) rs146652541 0.00001
NM_000492.4(CFTR):c.927C>G (p.Ala309=) rs1800084 0.00001
NM_000492.4(CFTR):c.942G>T (p.Gly314=) rs1244183935 0.00001
NM_000492.4(CFTR):c.972C>G (p.Pro324=) rs1799834 0.00001
NM_000492.4(CFTR):c.978A>G (p.Ala326=) rs757622174 0.00001
NM_000492.4(CFTR):c.979C>T (p.Leu327=) rs1360839108 0.00001
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.4(CFTR):c.1014C>A (p.Thr338=)
NM_000492.4(CFTR):c.1017C>T (p.Thr339=) rs1359708278
NM_000492.4(CFTR):c.1035T>C (p.Val345=)
NM_000492.4(CFTR):c.1038G>A (p.Leu346=) rs2116684331
NM_000492.4(CFTR):c.1047G>T (p.Ala349=) rs200520623
NM_000492.4(CFTR):c.1050C>T (p.Val350=)
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1059A>G (p.Gln353=) rs1800087
NM_000492.4(CFTR):c.1071T>C (p.Ala357=)
NM_000492.4(CFTR):c.1077A>G (p.Gln359=) rs761324191
NM_000492.4(CFTR):c.1080A>G (p.Thr360=) rs201246833
NM_000492.4(CFTR):c.108C>T (p.Asp36=)
NM_000492.4(CFTR):c.1095T>A (p.Leu365=)
NM_000492.4(CFTR):c.1098A>T (p.Gly366=)
NM_000492.4(CFTR):c.1117-17C>T
NM_000492.4(CFTR):c.1131G>A (p.Lys377=)
NM_000492.4(CFTR):c.1137A>G (p.Glu379=)
NM_000492.4(CFTR):c.1146A>C (p.Thr382=)
NM_000492.4(CFTR):c.1146A>T (p.Thr382=)
NM_000492.4(CFTR):c.114C>T (p.Tyr38=)
NM_000492.4(CFTR):c.1152A>G (p.Glu384=)
NM_000492.4(CFTR):c.1155T>C (p.Tyr385=)
NM_000492.4(CFTR):c.1158C>T (p.Asn386=)
NM_000492.4(CFTR):c.1161A>G (p.Leu387=) rs1799062301
NM_000492.4(CFTR):c.1164G>T (p.Thr388=) rs1800088
NM_000492.4(CFTR):c.1170A>G (p.Thr390=)
NM_000492.4(CFTR):c.1176A>G (p.Val392=) rs542860881
NM_000492.4(CFTR):c.1185G>A (p.Glu395=)
NM_000492.4(CFTR):c.1191A>T (p.Val397=)
NM_000492.4(CFTR):c.1209+9T>G
NM_000492.4(CFTR):c.120C>T (p.Ile40=) rs376538363
NM_000492.4(CFTR):c.1210-11_1210-10insGT rs1584793368
NM_000492.4(CFTR):c.1210-11_1210-10insGTGT
NM_000492.4(CFTR):c.1210-13_1210-11dup
NM_000492.4(CFTR):c.1210-15_1210-13delinsT rs1584793324
NM_000492.4(CFTR):c.1210-15_1210-13delinsTT
NM_000492.4(CFTR):c.1210-15_1210-13delinsTTT
NM_000492.4(CFTR):c.1210-17_1210-13delinsTTT
NM_000492.4(CFTR):c.1210-34TG[10] rs3832534
NM_000492.4(CFTR):c.1210-6dup rs1805177
NM_000492.4(CFTR):c.1212A>T (p.Gly404=)
NM_000492.4(CFTR):c.1221A>G (p.Glu407=) rs2115902714
NM_000492.4(CFTR):c.123T>C (p.Pro41=) rs1798379857
NM_000492.4(CFTR):c.1245C>T (p.Asn415=)
NM_000492.4(CFTR):c.1248T>C (p.Asn416=)
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.1263T>C (p.Thr421=)
NM_000492.4(CFTR):c.1269T>C (p.Asn423=) rs376039579
NM_000492.4(CFTR):c.1272T>C (p.Gly424=) rs2115903186
NM_000492.4(CFTR):c.1275T>C (p.Asp425=) rs1562895009
NM_000492.4(CFTR):c.1278C>T (p.Asp426=) rs2896225
NM_000492.4(CFTR):c.1284C>G (p.Leu428=)
NM_000492.4(CFTR):c.128T>C (p.Val43Ala)
NM_000492.4(CFTR):c.1296T>C (p.Asn432=)
NM_000492.4(CFTR):c.1299C>T (p.Phe433=)
NM_000492.4(CFTR):c.1302A>G (p.Ser434=)
NM_000492.4(CFTR):c.1305T>C (p.Leu435=)
NM_000492.4(CFTR):c.1311T>C (p.Gly437=) rs1562895049
NM_000492.4(CFTR):c.1317T>C (p.Pro439=) rs1562895052
NM_000492.4(CFTR):c.1317T>G (p.Pro439=) rs1562895052
NM_000492.4(CFTR):c.1332T>C (p.Ile444=)
NM_000492.4(CFTR):c.1353A>G (p.Gly451=) rs1220983447
NM_000492.4(CFTR):c.1356G>A (p.Gln452=)
NM_000492.4(CFTR):c.1359G>A (p.Leu453=)
NM_000492.4(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.4(CFTR):c.1371T>C (p.Ala457=)
NM_000492.4(CFTR):c.1386A>G (p.Ala462=)
NM_000492.4(CFTR):c.1392+19A>G
NM_000492.4(CFTR):c.1395T>C (p.Thr465=)
NM_000492.4(CFTR):c.1401T>C (p.Leu467=)
NM_000492.4(CFTR):c.1402C>T (p.Leu468=)
NM_000492.4(CFTR):c.1422A>G (p.Glu474=) rs1222883922
NM_000492.4(CFTR):c.1423C>T (p.Leu475=)
NM_000492.4(CFTR):c.1428G>A (p.Glu476=)
NM_000492.4(CFTR):c.1431T>C (p.Pro477=)
NM_000492.4(CFTR):c.1434A>C (p.Ser478=)
NM_000492.4(CFTR):c.1437G>A (p.Glu479=) rs754152822
NM_000492.4(CFTR):c.1449G>A (p.Lys483=)
NM_000492.4(CFTR):c.1458A>G (p.Gly486=)
NM_000492.4(CFTR):c.1464T>C (p.Ile488=) rs1799419575
NM_000492.4(CFTR):c.1467A>G (p.Ser489=) rs1799419729
NM_000492.4(CFTR):c.1470C>T (p.Phe490=) rs1799420001
NM_000492.4(CFTR):c.1479G>A (p.Gln493=)
NM_000492.4(CFTR):c.1500C>G (p.Gly500=)
NM_000492.4(CFTR):c.1509A>G (p.Lys503=)
NM_000492.4(CFTR):c.150T>G (p.Ser50=) rs2116635296
NM_000492.4(CFTR):c.1524T>C (p.Phe508=)
NM_000492.4(CFTR):c.1536T>C (p.Tyr512=) rs2115938553
NM_000492.4(CFTR):c.1551C>T (p.Tyr517=)
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.1560C>T (p.Val520=) rs768151081
NM_000492.4(CFTR):c.157T>C (p.Leu53=)
NM_000492.4(CFTR):c.1584+13G>A
NM_000492.4(CFTR):c.164+10T>C rs1310634696
NM_000492.4(CFTR):c.164+10delinsATGA
NM_000492.4(CFTR):c.164+9A>T rs397508245
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1686A>G (p.Val562=)
NM_000492.4(CFTR):c.16C>T (p.Leu6=) rs1554373095
NM_000492.4(CFTR):c.1719T>A (p.Ser573=)
NM_000492.4(CFTR):c.1732C>T (p.Leu578=) rs979121392
NM_000492.4(CFTR):c.1746A>C (p.Thr582=) rs751058333
NM_000492.4(CFTR):c.1766+16A>G rs2116026057
NM_000492.4(CFTR):c.1766+79T>A
NM_000492.4(CFTR):c.1766+80T>A
NM_000492.4(CFTR):c.1766+80T>C
NM_000492.4(CFTR):c.1766+81T>A
NM_000492.4(CFTR):c.1766+82A>T
NM_000492.4(CFTR):c.1773C>T (p.Val591=)
NM_000492.4(CFTR):c.1797T>C (p.Thr599=)
NM_000492.4(CFTR):c.1804T>C (p.Leu602=) rs1380798382
NM_000492.4(CFTR):c.1824A>G (p.Glu608=) rs2116030297
NM_000492.4(CFTR):c.1828T>C (p.Leu610=)
NM_000492.4(CFTR):c.1881T>C (p.Tyr627=)
NM_000492.4(CFTR):c.1890T>C (p.Phe630=)
NM_000492.4(CFTR):c.1899C>T (p.Leu633=)
NM_000492.4(CFTR):c.1902A>G (p.Gln634=) rs2116030586
NM_000492.4(CFTR):c.1905T>C (p.Asn635=)
NM_000492.4(CFTR):c.1932C>T (p.Leu644=)
NM_000492.4(CFTR):c.1938A>G (p.Gly646=)
NM_000492.4(CFTR):c.1947T>C (p.Ser649=)
NM_000492.4(CFTR):c.1950C>T (p.Phe650=) rs200204024
NM_000492.4(CFTR):c.1962T>C (p.Ser654=) rs1792036042
NM_000492.4(CFTR):c.1974A>G (p.Arg658=) rs2116031024
NM_000492.4(CFTR):c.198T>C (p.Asn66=)
NM_000492.4(CFTR):c.2001C>T (p.His667=) rs772786141
NM_000492.4(CFTR):c.2007C>T (p.Phe669=) rs958140362
NM_000492.4(CFTR):c.2010A>C (p.Ser670=)
NM_000492.4(CFTR):c.2019A>G (p.Gly673=) rs2116031424
NM_000492.4(CFTR):c.2022T>C (p.Asp674=) rs1259091056
NM_000492.4(CFTR):c.2025T>G (p.Ala675=)
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala) rs762888022
NM_000492.4(CFTR):c.2058T>C (p.Ser686=)
NM_000492.4(CFTR):c.2067G>A (p.Gln689=)
NM_000492.4(CFTR):c.2070T>C (p.Thr690=)
NM_000492.4(CFTR):c.2076G>A (p.Glu692=)
NM_000492.4(CFTR):c.2082G>A (p.Gly694=) rs1584812453
NM_000492.4(CFTR):c.2082G>C (p.Gly694=)
NM_000492.4(CFTR):c.2094G>A (p.Lys698=)
NM_000492.4(CFTR):c.2106C>G (p.Leu702=) rs1800102
NM_000492.4(CFTR):c.2115C>T (p.Ile705=)
NM_000492.4(CFTR):c.2127A>G (p.Arg709=) rs2116032010
NM_000492.4(CFTR):c.2136C>T (p.Ser712=)
NM_000492.4(CFTR):c.2151T>C (p.Thr717=)
NM_000492.4(CFTR):c.2166T>C (p.Asn722=)
NM_000492.4(CFTR):c.216C>G (p.Ala72=)
NM_000492.4(CFTR):c.216C>T (p.Ala72=) rs1033366496
NM_000492.4(CFTR):c.2172C>A (p.Ile724=)
NM_000492.4(CFTR):c.2172C>T (p.Ile724=) rs368599862
NM_000492.4(CFTR):c.2187T>C (p.Asp729=)
NM_000492.4(CFTR):c.2190G>A (p.Glu730=)
NM_000492.4(CFTR):c.2202A>G (p.Arg734=)
NM_000492.4(CFTR):c.2208G>A (p.Leu736=)
NM_000492.4(CFTR):c.220C>A (p.Arg74=)
NM_000492.4(CFTR):c.2211C>T (p.Ser737=)
NM_000492.4(CFTR):c.2217A>G (p.Val739=)
NM_000492.4(CFTR):c.2229G>A (p.Glu743=)
NM_000492.4(CFTR):c.2235A>G (p.Gly745=)
NM_000492.4(CFTR):c.2262G>T (p.Val754=)
NM_000492.4(CFTR):c.2283T>G (p.Leu761=)
NM_000492.4(CFTR):c.2286G>A (p.Gln762=)
NM_000492.4(CFTR):c.2288C>G (p.Ala763Gly)
NM_000492.4(CFTR):c.2289A>G (p.Ala763=) rs1792046083
NM_000492.4(CFTR):c.228T>C (p.Cys76=) rs777536750
NM_000492.4(CFTR):c.2290C>A (p.Arg764=)
NM_000492.4(CFTR):c.2295G>A (p.Arg765=)
NM_000492.4(CFTR):c.2307C>G (p.Val769=) rs1241371944
NM_000492.4(CFTR):c.2310G>T (p.Leu770=)
NM_000492.4(CFTR):c.2313C>T (p.Asn771=) rs768301278
NM_000492.4(CFTR):c.2328A>G (p.Ser776=) rs2116033048
NM_000492.4(CFTR):c.234C>T (p.Phe78=)
NM_000492.4(CFTR):c.2374C>A (p.Arg792=)
NM_000492.4(CFTR):c.2397G>A (p.Gln799=)
NM_000492.4(CFTR):c.2427A>T (p.Ser809=)
NM_000492.4(CFTR):c.2434T>C (p.Leu812=)
NM_000492.4(CFTR):c.2436A>G (p.Leu812=)
NM_000492.4(CFTR):c.2439T>C (p.Ser813=) rs2116033726
NM_000492.4(CFTR):c.2454G>A (p.Leu818=)
NM_000492.4(CFTR):c.2472T>C (p.Ile824=)
NM_000492.4(CFTR):c.2490+11A>G rs1482271794
NM_000492.4(CFTR):c.2496C>T (p.Cys832=) rs397508388
NM_000492.4(CFTR):c.24G>A (p.Lys8=) rs1800071
NM_000492.4(CFTR):c.2532T>G (p.Thr844=)
NM_000492.4(CFTR):c.2547C>T (p.Tyr849=) rs397508394
NM_000492.4(CFTR):c.2556T>C (p.Tyr852=)
NM_000492.4(CFTR):c.2562T>A (p.Thr854=)
NM_000492.4(CFTR):c.2571G>A (p.Lys857=) rs397508398
NM_000492.4(CFTR):c.2574C>T (p.Ser858=) rs2116039690
NM_000492.4(CFTR):c.2589A>G (p.Leu863=)
NM_000492.4(CFTR):c.258C>T (p.Ile86=)
NM_000492.4(CFTR):c.2605A>G (p.Ile869Val)
NM_000492.4(CFTR):c.2620-12G>A
NM_000492.4(CFTR):c.2620-80G>A
NM_000492.4(CFTR):c.2620-80G>T
NM_000492.4(CFTR):c.2620-81T>G
NM_000492.4(CFTR):c.2620-82G>T
NM_000492.4(CFTR):c.2632T>C (p.Leu878=) rs2116059306
NM_000492.4(CFTR):c.2641C>T (p.Leu881=) rs2116059368
NM_000492.4(CFTR):c.264A>G (p.Leu88=)
NM_000492.4(CFTR):c.2657+19A>G
NM_000492.4(CFTR):c.2673C>T (p.Asp891=)
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.2689C>T (p.His897Tyr)
NM_000492.4(CFTR):c.2694T>C (p.Ser898=) rs2116061252
NM_000492.4(CFTR):c.2700T>C (p.Asn900=)
NM_000492.4(CFTR):c.2706C>T (p.Ser902=)
NM_000492.4(CFTR):c.273+11C>T
NM_000492.4(CFTR):c.273+13T>C
NM_000492.4(CFTR):c.2730C>G (p.Thr910=)
NM_000492.4(CFTR):c.2733T>C (p.Ser911=)
NM_000492.4(CFTR):c.2736G>C (p.Ser912=) rs200901072
NM_000492.4(CFTR):c.274-9C>A
NM_000492.4(CFTR):c.2745G>A (p.Val915=)
NM_000492.4(CFTR):c.2790A>C (p.Gly930=)
NM_000492.4(CFTR):c.2790A>G (p.Gly930=)
NM_000492.4(CFTR):c.2793C>T (p.Phe931=)
NM_000492.4(CFTR):c.279C>T (p.Val93=)
NM_000492.4(CFTR):c.2811G>T (p.Leu937=)
NM_000492.4(CFTR):c.2826C>T (p.Ile942=)
NM_000492.4(CFTR):c.282C>G (p.Thr94=)
NM_000492.4(CFTR):c.2835G>T (p.Ser945=) rs193922513
NM_000492.4(CFTR):c.2850C>T (p.His950=)
NM_000492.4(CFTR):c.2880T>C (p.Pro960=)
NM_000492.4(CFTR):c.2889C>T (p.Thr963=)
NM_000492.4(CFTR):c.288A>C (p.Ala96=)
NM_000492.4(CFTR):c.2895C>T (p.Asn965=)
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+14T>G rs2116062569
NM_000492.4(CFTR):c.2909-11G>A
NM_000492.4(CFTR):c.291A>G (p.Val97=)
NM_000492.4(CFTR):c.2937T>C (p.Asp979=) rs1792305947
NM_000492.4(CFTR):c.2970C>T (p.Thr990=)
NM_000492.4(CFTR):c.2979C>T (p.Asp993=) rs2116069838
NM_000492.4(CFTR):c.297T>G (p.Pro99=) rs2116669955
NM_000492.4(CFTR):c.309A>G (p.Gly103=)
NM_000492.4(CFTR):c.30C>T (p.Ser10=) rs1369001389
NM_000492.4(CFTR):c.312A>G (p.Arg104=) rs2116670032
NM_000492.4(CFTR):c.321T>A (p.Ala107=) rs778204477
NM_000492.4(CFTR):c.321T>G (p.Ala107=)
NM_000492.4(CFTR):c.330C>T (p.Asp110=)
NM_000492.4(CFTR):c.3368-13del
NM_000492.4(CFTR):c.3368-19G>A rs374104839
NM_000492.4(CFTR):c.3372A>G (p.Glu1124=)
NM_000492.4(CFTR):c.3405A>G (p.Leu1135=)
NM_000492.4(CFTR):c.3423T>C (p.Ser1141=)
NM_000492.4(CFTR):c.3426A>G (p.Thr1142=) rs2116096536
NM_000492.4(CFTR):c.3427T>C (p.Leu1143=) rs768276513
NM_000492.4(CFTR):c.342G>A (p.Lys114=)
NM_000492.4(CFTR):c.3432G>A (p.Gln1144=)
NM_000492.4(CFTR):c.3447C>A (p.Ser1149=)
NM_000492.4(CFTR):c.3469-11T>G
NM_000492.4(CFTR):c.3472C>A (p.Arg1158=) rs79850223
NM_000492.4(CFTR):c.3480G>A (p.Val1160=) rs1298788637
NM_000492.4(CFTR):c.3504C>T (p.Asp1168=)
NM_000492.4(CFTR):c.3513A>C (p.Thr1171=)
NM_000492.4(CFTR):c.351C>T (p.Arg117=) rs2116670233
NM_000492.4(CFTR):c.3531G>A (p.Lys1177=)
NM_000492.4(CFTR):c.354T>A (p.Ser118=)
NM_000492.4(CFTR):c.354T>C (p.Ser118=) rs2116670246
NM_000492.4(CFTR):c.3552T>C (p.Asn1184=)
NM_000492.4(CFTR):c.3588A>G (p.Ser1196=)
NM_000492.4(CFTR):c.3606C>T (p.Asp1202=) rs2116129667
NM_000492.4(CFTR):c.3609C>T (p.Ile1203=)
NM_000492.4(CFTR):c.360G>C (p.Ala120=)
NM_000492.4(CFTR):c.360G>T (p.Ala120=)
NM_000492.4(CFTR):c.3615C>T (p.Pro1205=)
NM_000492.4(CFTR):c.3618A>T (p.Ser1206=)
NM_000492.4(CFTR):c.3621G>A (p.Gly1207=)
NM_000492.4(CFTR):c.3621G>T (p.Gly1207=)
NM_000492.4(CFTR):c.3636C>G (p.Val1212=)
NM_000492.4(CFTR):c.3648A>T (p.Thr1216=)
NM_000492.4(CFTR):c.3666T>C (p.Gly1222=)
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys) rs371475225
NM_000492.4(CFTR):c.3687C>T (p.Asn1229=) rs139322772
NM_000492.4(CFTR):c.3690T>C (p.Ile1230=)
NM_000492.4(CFTR):c.3711C>G (p.Gly1237=)
NM_000492.4(CFTR):c.3718-15A>C
NM_000492.4(CFTR):c.3726C>G (p.Leu1242=) rs758818517
NM_000492.4(CFTR):c.3727T>C (p.Leu1243=) rs1392953776
NM_000492.4(CFTR):c.3738T>C (p.Thr1246=)
NM_000492.4(CFTR):c.3741A>G (p.Gly1247=)
NM_000492.4(CFTR):c.3747G>A (p.Gly1249=) rs794727373
NM_000492.4(CFTR):c.3772T>C (p.Leu1258=) rs202074317
NM_000492.4(CFTR):c.3783G>C (p.Leu1261=) rs771812900
NM_000492.4(CFTR):c.378C>T (p.Gly126=)
NM_000492.4(CFTR):c.3792A>G (p.Glu1264=)
NM_000492.4(CFTR):c.3801C>A (p.Ile1267=)
NM_000492.4(CFTR):c.3807C>T (p.Ile1269=) rs1800129
NM_000492.4(CFTR):c.3819T>G (p.Ser1273=)
NM_000492.4(CFTR):c.3828A>T (p.Ser1276=)
NM_000492.4(CFTR):c.3849G>A (p.Arg1283=)
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.4(CFTR):c.387T>C (p.Leu129=)
NM_000492.4(CFTR):c.3909C>T (p.Asn1303=)
NM_000492.4(CFTR):c.3910T>C (p.Leu1304=) rs1478450897
NM_000492.4(CFTR):c.3918C>T (p.Pro1306=) rs1800132
NM_000492.4(CFTR):c.3960T>C (p.Asp1320=) rs2116195757
NM_000492.4(CFTR):c.396T>C (p.Ile132=)
NM_000492.4(CFTR):c.3972C>T (p.Leu1324=)
NM_000492.4(CFTR):c.3978T>C (p.Ser1326=)
NM_000492.4(CFTR):c.3996T>C (p.Pro1332=) rs2116220796
NM_000492.4(CFTR):c.39C>T (p.Ser13=)
NM_000492.4(CFTR):c.400A>C (p.Arg134=)
NM_000492.4(CFTR):c.4011T>C (p.Phe1337=)
NM_000492.4(CFTR):c.4020G>A (p.Val1340=)
NM_000492.4(CFTR):c.4026G>A (p.Gly1342=)
NM_000492.4(CFTR):c.4026G>C (p.Gly1342=) rs1584848821
NM_000492.4(CFTR):c.4035C>A (p.Val1345=) rs2116220979
NM_000492.4(CFTR):c.4047C>A (p.Gly1349=)
NM_000492.4(CFTR):c.4053G>A (p.Lys1351=)
NM_000492.4(CFTR):c.4057T>C (p.Leu1353=)
NM_000492.4(CFTR):c.405A>G (p.Thr135=)
NM_000492.4(CFTR):c.4077T>C (p.Ser1359=) rs1449323479
NM_000492.4(CFTR):c.4077T>G (p.Ser1359=) rs1449323479
NM_000492.4(CFTR):c.408G>C (p.Leu136=)
NM_000492.4(CFTR):c.4098C>T (p.Ile1366=)
NM_000492.4(CFTR):c.4116C>T (p.Pro1372=) rs1793345960
NM_000492.4(CFTR):c.411C>T (p.Leu137=)
NM_000492.4(CFTR):c.4137-12T>C
NM_000492.4(CFTR):c.4152T>C (p.Ile1384=)
NM_000492.4(CFTR):c.4161T>C (p.Thr1387=)
NM_000492.4(CFTR):c.4164A>G (p.Leu1388=)
NM_000492.4(CFTR):c.4173A>T (p.Ala1391=)
NM_000492.4(CFTR):c.4188A>G (p.Thr1396=) rs1322987429
NM_000492.4(CFTR):c.4194T>C (p.Ile1398=) rs2116222791
NM_000492.4(CFTR):c.4197C>T (p.Leu1399=) rs79688066
NM_000492.4(CFTR):c.4218A>G (p.Ala1406=)
NM_000492.4(CFTR):c.4222C>T (p.Leu1408=) rs1793360215
NM_000492.4(CFTR):c.4236A>G (p.Gln1412=) rs541737583
NM_000492.4(CFTR):c.4242+20C>T rs1229413013
NM_000492.4(CFTR):c.432C>T (p.Gly144=) rs1431645851
NM_000492.4(CFTR):c.441C>T (p.His147=)
NM_000492.4(CFTR):c.453G>A (p.Gln151=)
NM_000492.4(CFTR):c.489+10C>G rs1447914513
NM_000492.4(CFTR):c.490-9T>A rs2116674841
NM_000492.4(CFTR):c.504A>G (p.Ser168=)
NM_000492.4(CFTR):c.516A>G (p.Leu172=)
NM_000492.4(CFTR):c.528T>C (p.Ser176=) rs1798911676
NM_000492.4(CFTR):c.53+11G>A
NM_000492.4(CFTR):c.53+18C>A
NM_000492.4(CFTR):c.555C>T (p.Ser185=)
NM_000492.4(CFTR):c.561C>T (p.Asn187=) rs397508754
NM_000492.4(CFTR):c.562C>T (p.Leu188=)
NM_000492.4(CFTR):c.567C>T (p.Asn189=) rs397508755
NM_000492.4(CFTR):c.582A>T (p.Gly194=)
NM_000492.4(CFTR):c.594A>C (p.Ala198=) rs1481956057
NM_000492.4(CFTR):c.60C>A (p.Thr20=) rs534609552
NM_000492.4(CFTR):c.60C>T (p.Thr20=)
NM_000492.4(CFTR):c.618G>A (p.Leu206=)
NM_000492.4(CFTR):c.621A>G (p.Gln207=)
NM_000492.4(CFTR):c.630C>T (p.Leu210=) rs1584786975
NM_000492.4(CFTR):c.639G>A (p.Gly213=)
NM_000492.4(CFTR):c.645C>T (p.Ile215=)
NM_000492.4(CFTR):c.651G>A (p.Glu217=) rs1422913967
NM_000492.4(CFTR):c.655T>C (p.Leu219=)
NM_000492.4(CFTR):c.663G>T (p.Ala221=)
NM_000492.4(CFTR):c.672C>T (p.Phe224=)
NM_000492.4(CFTR):c.675T>C (p.Cys225=)
NM_000492.4(CFTR):c.688C>T (p.Leu230=) rs201410793
NM_000492.4(CFTR):c.696C>A (p.Val232=) rs2116676736
NM_000492.4(CFTR):c.696C>T (p.Val232=)
NM_000492.4(CFTR):c.705T>C (p.Leu235=)
NM_000492.4(CFTR):c.705T>G (p.Leu235=) rs762380161
NM_000492.4(CFTR):c.717G>A (p.Gly239=)
NM_000492.4(CFTR):c.717G>T (p.Gly239=) rs764661797
NM_000492.4(CFTR):c.723G>A (p.Gly241=)
NM_000492.4(CFTR):c.743+11A>G
NM_000492.4(CFTR):c.744A>G (p.Arg248=)
NM_000492.4(CFTR):c.756T>C (p.Ala252=)
NM_000492.4(CFTR):c.765C>T (p.Ile255=) rs1202176665
NM_000492.4(CFTR):c.780G>C (p.Val260=)
NM_000492.4(CFTR):c.789A>G (p.Ser263=)
NM_000492.4(CFTR):c.807C>T (p.Ile269=)
NM_000492.4(CFTR):c.819G>A (p.Lys273=)
NM_000492.4(CFTR):c.822A>G (p.Ala274=) rs2116678695
NM_000492.4(CFTR):c.825C>T (p.Tyr275=)
NM_000492.4(CFTR):c.846A>G (p.Glu282=)
NM_000492.4(CFTR):c.84C>T (p.Tyr28=)
NM_000492.4(CFTR):c.867A>G (p.Arg289=) rs1798963965
NM_000492.4(CFTR):c.869+9T>C rs1798964448
NM_000492.4(CFTR):c.876A>G (p.Glu292=) rs2116683514
NM_000492.4(CFTR):c.891G>A (p.Arg297=)
NM_000492.4(CFTR):c.906G>C (p.Val302=) rs2116683646
NM_000492.4(CFTR):c.90G>A (p.Gln30=)
NM_000492.4(CFTR):c.921C>T (p.Ser307=)
NM_000492.4(CFTR):c.930C>T (p.Phe310=) rs1230103075
NM_000492.4(CFTR):c.93C>T (p.Arg31=)
NM_000492.4(CFTR):c.954G>A (p.Val318=) rs766189605
NM_000492.4(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000492.4(CFTR):c.966G>C (p.Val322=) rs2116683990
NM_000492.4(CFTR):c.969T>A (p.Leu323=)
NM_000492.4(CFTR):c.96G>A (p.Leu32=)
NM_000492.4(CFTR):c.978A>T (p.Ala326=)
NM_000492.4(CFTR):c.981A>T (p.Leu327=)
NM_000492.4(CFTR):c.993C>T (p.Ile331=) rs2116684106
NM_000492.4(CFTR):c.996C>T (p.Ile332=)

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