ClinVar Miner

List of variants in gene CLCN1

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Gene type:
ClinVar version:
Total variants: 346
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HGVS dbSNP
CLCN1, 1-BP INS, 831G
CLCN1, 14-BP DEL
CLCN1, ARG300TER
CLCN1, TRP433ARG
NC_000007.13:g.(?_143042594)_(143047767_?)del
NC_000007.13:g.(?_143047445)_(143049078_?)dup
NC_000007.14:g.143316078T>G
NG_009815.1:g.19647-?_28496+?dup
NM_000083.2(CLCN1):c.1796+2_1796+6delTCAGG rs1563084796
NM_000083.2(CLCN1):c.434-2_434dup rs753470655
NM_000083.2(CLCN1):c.50_434-202del
NM_000083.2(CLCN1):c.698delG (p.Gly233Alafs) rs1423567292
NM_000083.3(CLCN1):c.*29C>A rs202172391
NM_000083.3(CLCN1):c.*29C>T rs202172391
NM_000083.3(CLCN1):c.-14C>A rs2280663
NM_000083.3(CLCN1):c.-15T>G rs182668076
NM_000083.3(CLCN1):c.-16C>G rs191902231
NM_000083.3(CLCN1):c.-21C>T rs34904831
NM_000083.3(CLCN1):c.100G>A (p.Gly34Arg) rs200889399
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu) rs1554436510
NM_000083.3(CLCN1):c.1060A>G (p.Ile354Val)
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760
NM_000083.3(CLCN1):c.1065-108G>A
NM_000083.3(CLCN1):c.1065-16T>C rs113764654
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala) rs1085307989
NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser) rs140536210
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) rs201714423
NM_000083.3(CLCN1):c.1167-10T>C rs543120965
NM_000083.3(CLCN1):c.1167-141G>T
NM_000083.3(CLCN1):c.1167-196C>G
NM_000083.3(CLCN1):c.1167-3C>T rs1308054644
NM_000083.3(CLCN1):c.1168C>T (p.Arg390Cys)
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) rs1554436799
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) rs202119213
NM_000083.3(CLCN1):c.120G>C (p.Gly40=) rs200344297
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) rs202019723
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799
NM_000083.3(CLCN1):c.1241T>C (p.Met414Thr) rs368276618
NM_000083.3(CLCN1):c.1251+11G>T rs780748786
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)
NM_000083.3(CLCN1):c.1278_1281TTTG[1] (p.Phe428fs)
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg) rs1563080014
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg)
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr) rs41276054
NM_000083.3(CLCN1):c.133A>G (p.Arg45Gly) rs371715660
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp) rs376026619
NM_000083.3(CLCN1):c.1357del (p.Arg453fs)
NM_000083.3(CLCN1):c.1357dup (p.Arg453fs)
NM_000083.3(CLCN1):c.1388T>G (p.Phe463Cys) rs1064796557
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331
NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu) rs776848644
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu)
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797
NM_000083.3(CLCN1):c.13C>T (p.Arg5Trp) rs1322496244
NM_000083.3(CLCN1):c.1401+17T>C rs7794560
NM_000083.3(CLCN1):c.1401+180C>A
NM_000083.3(CLCN1):c.1401+1G>T rs769861892
NM_000083.3(CLCN1):c.1402-9C>T rs2272252
NM_000083.3(CLCN1):c.1405T>C (p.Trp469Arg) rs759207718
NM_000083.3(CLCN1):c.1412C>T (p.Ser471Phe) rs80356693
NM_000083.3(CLCN1):c.1416C>A (p.Ile472=)
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1438C>A (p.Pro480Thr) rs80356695
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) rs80356694
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg)
NM_000083.3(CLCN1):c.1444_1449del (p.Gly482_Gly483del) rs1554438053
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619
NM_000083.3(CLCN1):c.1471+1G>A rs375596425
NM_000083.3(CLCN1):c.1472-66T>C
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705
NM_000083.3(CLCN1):c.1482T>C (p.Phe494=) rs745690349
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) rs121912801
NM_000083.3(CLCN1):c.1490T>G (p.Leu497Arg)
NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg) rs121912807
NM_000083.3(CLCN1):c.1517T>G (p.Phe506Cys)
NM_000083.3(CLCN1):c.153C>T (p.Gly51=) rs1554433799
NM_000083.3(CLCN1):c.156C>T (p.Pro52=) rs886062032
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys) rs1563083476
NM_000083.3(CLCN1):c.1582+66T>C
NM_000083.3(CLCN1):c.1583-12G>A rs374736253
NM_000083.3(CLCN1):c.1583-169T>G
NM_000083.3(CLCN1):c.1583-62A>C
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704
NM_000083.3(CLCN1):c.1593G>A (p.Ala531=) rs367696668
NM_000083.3(CLCN1):c.1605C>T (p.Ala535=) rs200676193
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454
NM_000083.3(CLCN1):c.1612_1613CA[2] (p.Thr539fs) rs1554438432
NM_000083.3(CLCN1):c.1621T>G (p.Ser541Ala) rs1563084569
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met) rs1554438433
NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs) rs1563084597
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992
NM_000083.3(CLCN1):c.1652G>A (p.Gly551Asp) rs1563084603
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.3(CLCN1):c.1662_1663dup (p.His555fs) rs1554438441
NM_000083.3(CLCN1):c.1663C>T (p.His555Tyr) rs201850090
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) rs80356697
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile)
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser)
NM_000083.3(CLCN1):c.1689T>A (p.Val563=) rs371701131
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val) rs746346988
NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter)
NM_000083.3(CLCN1):c.1796G>A (p.Ser599Asn) rs1554438471
NM_000083.3(CLCN1):c.1797-9C>T rs41276057
NM_000083.3(CLCN1):c.180+3A>T rs202217420
NM_000083.3(CLCN1):c.1807A>T (p.Ile603Phe)
NM_000083.3(CLCN1):c.1815T>C (p.Val605=) rs141945240
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys)
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115
NM_000083.3(CLCN1):c.1863A>G (p.Thr621=) rs369099862
NM_000083.3(CLCN1):c.1867G>A (p.Gly623Arg) rs886062035
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) rs201894078
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile)
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu) rs772430525
NM_000083.3(CLCN1):c.1918del (p.Val640fs) rs1554438574
NM_000083.3(CLCN1):c.1930+108T>C
NM_000083.3(CLCN1):c.1930+182G>A
NM_000083.3(CLCN1):c.1930+1G>A
NM_000083.3(CLCN1):c.1930G>A (p.Asp644Asn) rs1554438576
NM_000083.3(CLCN1):c.1931-200T>C
NM_000083.3(CLCN1):c.1931-293C>A
NM_000083.3(CLCN1):c.1931-62G>A
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro)
NM_000083.3(CLCN1):c.1953G>T (p.Ser651=) rs1375543643
NM_000083.3(CLCN1):c.1977C>A (p.Ala659=) rs904572417
NM_000083.3(CLCN1):c.1988G>A (p.Arg663His) rs1212604561
NM_000083.3(CLCN1):c.2000C>T (p.Pro667Leu) rs1424224517
NM_000083.3(CLCN1):c.2012T>G (p.Leu671Arg) rs772516304
NM_000083.3(CLCN1):c.2023C>T (p.Gln675Ter) rs1563086980
NM_000083.3(CLCN1):c.2023del (p.Gln675fs) rs886042007
NM_000083.3(CLCN1):c.2024A>C (p.Gln675Pro) rs768582911
NM_000083.3(CLCN1):c.2026G>C (p.Glu676Gln) rs750187204
NM_000083.3(CLCN1):c.2047G>C (p.Glu683Gln) rs760351874
NM_000083.3(CLCN1):c.2056T>G (p.Tyr686Asp) rs1359747708
NM_000083.3(CLCN1):c.2062_2063insTTC (p.Gly688delinsValArg) rs770836890
NM_000083.3(CLCN1):c.2124C>T (p.Phe708=) rs769811983
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622
NM_000083.3(CLCN1):c.2136_2141TGAGGA[3] (p.713_714ED[4]) rs776429032
NM_000083.3(CLCN1):c.2154C>T (p.Asp718=) rs2272251
NM_000083.3(CLCN1):c.215G>C (p.Arg72Thr) rs886062033
NM_000083.3(CLCN1):c.2172+128A>G
NM_000083.3(CLCN1):c.2172+1G>T rs1273524525
NM_000083.3(CLCN1):c.2172+3G>A
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu) rs13438232
NM_000083.3(CLCN1):c.2192dup (p.His732fs) rs1563087702
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692
NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter) rs1554434400
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys)
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) rs144612641
NM_000083.3(CLCN1):c.2239C>T (p.Pro747Ser) rs373850192
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=) rs78085922
NM_000083.3(CLCN1):c.224A>T (p.Asp75Val)
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro) rs112282456
NM_000083.3(CLCN1):c.2284+19G>A rs769666294
NM_000083.3(CLCN1):c.2284+42G>A
NM_000083.3(CLCN1):c.2284+5C>T rs74824159
NM_000083.3(CLCN1):c.2285-1G>C rs1222525763
NM_000083.3(CLCN1):c.2287C>A (p.Gln763Lys) rs754581538
NM_000083.3(CLCN1):c.2330del (p.Gly777fs) rs80356707
NM_000083.3(CLCN1):c.2339G>A (p.Arg780His) rs529481237
NM_000083.3(CLCN1):c.2364+10G>A rs201855153
NM_000083.3(CLCN1):c.2364+2T>A rs886041384
NM_000083.3(CLCN1):c.2364+67G>A
NM_000083.3(CLCN1):c.2365-102C>T
NM_000083.3(CLCN1):c.2365-114A>G
NM_000083.3(CLCN1):c.2365-126G>A
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter) rs1131691551
NM_000083.3(CLCN1):c.2403+4A>C rs372826693
NM_000083.3(CLCN1):c.2403+5G>A rs1474520642
NM_000083.3(CLCN1):c.2404-90C>T
NM_000083.3(CLCN1):c.2411C>T (p.Ala804Val) rs146453561
NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter) rs1554439817
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr)
NM_000083.3(CLCN1):c.2461_2463delinsCTC (p.Ile821Leu) rs1554439830
NM_000083.3(CLCN1):c.2464G>C (p.Asp822His) rs143146088
NM_000083.3(CLCN1):c.2497A>G (p.Thr833Ala) rs112068131
NM_000083.3(CLCN1):c.2509-16T>G rs774042985
NM_000083.3(CLCN1):c.2509-3C>T rs375341574
NM_000083.3(CLCN1):c.2512_2513insCTCA (p.His838fs) rs80356698
NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs) rs780534566
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro) rs1563090141
NM_000083.3(CLCN1):c.2530_2532del (p.Leu844del) rs1563090152
NM_000083.3(CLCN1):c.2541C>T (p.His847=) rs146653916
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=) rs775384507
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met)
NM_000083.3(CLCN1):c.2564G>A (p.Gly855Glu) rs1554439879
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) rs767209392
NM_000083.3(CLCN1):c.2595+58G>C
NM_000083.3(CLCN1):c.2596-1G>A rs771721648
NM_000083.3(CLCN1):c.25C>A (p.Arg9Ser)
NM_000083.3(CLCN1):c.260_261delinsTT (p.Thr87Ile) rs1064796042
NM_000083.3(CLCN1):c.261C>T (p.Thr87=) rs6962852
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) rs1057518917
NM_000083.3(CLCN1):c.2641C>T (p.Arg881Cys)
NM_000083.3(CLCN1):c.264G>A (p.Val88=) rs759188441
NM_000083.3(CLCN1):c.266A>G (p.Asp89Gly) rs948634525
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077
NM_000083.3(CLCN1):c.2713G>A (p.Glu905Lys) rs886062036
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp)
NM_000083.3(CLCN1):c.2763_2764TG[1] (p.Val922fs) rs1563091175
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile) rs777708543
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr)
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala)
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=) rs760793323
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358
NM_000083.3(CLCN1):c.286T>C (p.Tyr96His) rs1320351683
NM_000083.3(CLCN1):c.2883G>C (p.Gly961=) rs1057522756
NM_000083.3(CLCN1):c.2901C>T (p.Ala967=) rs143082508
NM_000083.3(CLCN1):c.2902G>C (p.Asp968His)
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932
NM_000083.3(CLCN1):c.2931_2932CA[1] (p.Thr978fs) rs778865730
NM_000083.3(CLCN1):c.2937C>T (p.Asp979=) rs776873546
NM_000083.3(CLCN1):c.299A>G (p.Gln100Arg)
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn) rs1204927357
NM_000083.3(CLCN1):c.302-1G>A
NM_000083.3(CLCN1):c.302-4C>T rs113839156
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)
NM_000083.3(CLCN1):c.314G>A (p.Arg105His) rs756353660
NM_000083.3(CLCN1):c.316C>G (p.Leu106Val) rs145517198
NM_000083.3(CLCN1):c.32G>C (p.Gly11Ala) rs1563071875
NM_000083.3(CLCN1):c.352= (p.Gly118=) rs10282312
NM_000083.3(CLCN1):c.369T>C (p.Leu123=) rs745674068
NM_000083.3(CLCN1):c.378dup (p.Leu127fs) rs1320040467
NM_000083.3(CLCN1):c.37C>A (p.Gln13Lys) rs143025648
NM_000083.3(CLCN1):c.382A>G (p.Met128Val) rs80356699
NM_000083.3(CLCN1):c.394A>T (p.Ser132Cys) rs80356684
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)
NM_000083.3(CLCN1):c.432G>A (p.Gln144=) rs921731349
NM_000083.3(CLCN1):c.433+185G>A
NM_000083.3(CLCN1):c.433+72C>G
NM_000083.3(CLCN1):c.433G>T (p.Ala145Ser)
NM_000083.3(CLCN1):c.434-10G>A rs566067406
NM_000083.3(CLCN1):c.434-14A>G rs200263856
NM_000083.3(CLCN1):c.434-1_437del rs1563074191
NM_000083.3(CLCN1):c.434-5C>T rs1290037207
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr) rs140726900
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg) rs111482384
NM_000083.3(CLCN1):c.469del (p.Leu157fs) rs1554434794
NM_000083.3(CLCN1):c.478C>T (p.Gln160Ter)
NM_000083.3(CLCN1):c.480G>C (p.Gln160His)
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe)
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val) rs969430772
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro) rs1554434814
NM_000083.3(CLCN1):c.563-23A>T
NM_000083.3(CLCN1):c.563-9C>T rs201404573
NM_000083.3(CLCN1):c.563G>C (p.Gly188Ala) rs1554434857
NM_000083.3(CLCN1):c.563G>T (p.Gly188Val) rs1554434857
NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe) rs121912810
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) rs80356686
NM_000083.3(CLCN1):c.57C>A (p.Asp19Glu) rs886062031
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) rs1347382107
NM_000083.3(CLCN1):c.595C>T (p.Arg199Cys)
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile)
NM_000083.3(CLCN1):c.633C>T (p.Ala211=) rs138246784
NM_000083.3(CLCN1):c.635T>C (p.Phe212Ser) rs201113768
NM_000083.3(CLCN1):c.635T>G (p.Phe212Cys) rs201113768
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr) rs189963844
NM_000083.3(CLCN1):c.655C>T (p.Leu219=) rs1427322271
NM_000083.3(CLCN1):c.663G>A (p.Ala221=) rs147317366
NM_000083.3(CLCN1):c.664G>A (p.Gly222Ser) rs747078264
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu)
NM_000083.3(CLCN1):c.696G>A (p.Glu232=) rs923380712
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu)
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala) rs1064794643
NM_000083.3(CLCN1):c.720C>T (p.Ser240=) rs764402957
NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter) rs561470261
NM_000083.3(CLCN1):c.749T>C (p.Met250Thr)
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.751del (p.Ser251fs)
NM_000083.3(CLCN1):c.756G>A (p.Val252=) rs886062034
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp)
NM_000083.3(CLCN1):c.762C>T (p.Cys254=) rs772027125
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295
NM_000083.3(CLCN1):c.774+146T>C
NM_000083.3(CLCN1):c.774+170G>A
NM_000083.3(CLCN1):c.774+1G>A rs776073429
NM_000083.3(CLCN1):c.774G>A (p.Glu258=)
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu) rs1554435319
NM_000083.3(CLCN1):c.789del (p.Ser264fs)
NM_000083.3(CLCN1):c.799C>T (p.Leu267=) rs1563075864
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.3(CLCN1):c.804G>A (p.Thr268=) rs141521078
NM_000083.3(CLCN1):c.809G>A (p.Gly270Asp) rs1490537212
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg) rs1554435334
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr)
NM_000083.3(CLCN1):c.815C>G (p.Ala272Gly)
NM_000083.3(CLCN1):c.815C>T (p.Ala272Val) rs1563075892
NM_000083.3(CLCN1):c.817G>A (p.Val273Met)
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341
NM_000083.3(CLCN1):c.838G>A (p.Gly280Arg)
NM_000083.3(CLCN1):c.844C>G (p.Pro282Ala)
NM_000083.3(CLCN1):c.847C>T (p.Leu283Phe) rs80356688
NM_000083.3(CLCN1):c.852A>G (p.Gly284=) rs1417532624
NM_000083.3(CLCN1):c.853+17C>A rs201114390
NM_000083.3(CLCN1):c.854-8C>T rs201115855
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084
NM_000083.3(CLCN1):c.857T>C (p.Val286Ala) rs80356689
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter) rs1554436419
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000083.3(CLCN1):c.900G>A (p.Arg300=) rs149578972
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys) rs1563078716
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly) rs1554436427
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) rs1229066957
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del) rs766116662
NM_000083.3(CLCN1):c.922G>C (p.Ala308Pro) rs1330549395
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691
NM_000083.3(CLCN1):c.932T>G (p.Phe311Cys)
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692
NM_000083.3(CLCN1):c.949C>A (p.Arg317=)
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter) rs1337473924
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu)
NM_000083.3(CLCN1):c.979+1G>A rs1563078827
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) rs774396430

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