ClinVar Miner

List of variants in gene CLCN1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 440
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp) rs10282312 0.98349
NM_000083.3(CLCN1):c.1167-141G>T rs2367941 0.88632
NM_000083.3(CLCN1):c.1065-108G>A rs2242493 0.63262
NM_000083.3(CLCN1):c.2154C>T (p.Asp718=) rs2272251 0.44574
NM_000083.3(CLCN1):c.1402-28G>A rs2272253 0.44267
NM_000083.3(CLCN1):c.1583-117A>G rs2293365 0.44062
NM_000083.3(CLCN1):c.2285-65G>C rs2242492 0.44045
NM_000083.3(CLCN1):c.1796+76A>G rs940864 0.44040
NM_000083.3(CLCN1):c.1402-9C>T rs2272252 0.43982
NM_000083.3(CLCN1):c.433+72C>G rs7800971 0.43455
NM_000083.3(CLCN1):c.1931-293C>A rs4726609 0.43237
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu) rs13438232 0.39795
NM_000083.2(CLCN1):c.-135T>G rs6464541 0.39068
NM_000083.3(CLCN1):c.2284+33C>G rs56680997 0.39032
NM_000083.3(CLCN1):c.261C>T (p.Thr87=) rs6962852 0.37404
NM_000083.3(CLCN1):c.1401+180C>A rs2016450 0.29539
NM_000083.3(CLCN1):c.774+146T>C rs2272257 0.22634
NM_000083.3(CLCN1):c.774+170G>A rs2272256 0.22335
NM_000083.3(CLCN1):c.1930+182G>A rs62471044 0.19694
NM_000083.3(CLCN1):c.301+27T>A rs6948526 0.14969
NM_000083.3(CLCN1):c.1401+17T>C rs7794560 0.14458
NM_000083.3(CLCN1):c.2365-102C>T rs2242490 0.12853
NM_000083.3(CLCN1):c.2365-114A>G rs2242491 0.12846
NM_000083.3(CLCN1):c.2172+128A>G rs45554138 0.12796
NM_000083.3(CLCN1):c.2365-65T>C rs2242489 0.10032
NM_000083.3(CLCN1):c.1582+66T>C rs34219073 0.07792
NM_000083.3(CLCN1):c.563-23A>T rs41276048 0.05101
NM_000083.3(CLCN1):c.2404-90C>T rs41277416 0.04997
NM_000083.3(CLCN1):c.-21C>T rs34904831 0.04948
NM_000083.3(CLCN1):c.2364+67G>A rs77994621 0.03187
NM_000083.3(CLCN1):c.1166+204T>C rs55910546 0.03092
NM_000083.3(CLCN1):c.2172+172A>G rs75189021 0.02200
NM_000083.3(CLCN1):c.1930+108T>C rs17381401 0.02190
NM_000083.3(CLCN1):c.2595+216C>T rs189876438 0.02027
NM_000083.3(CLCN1):c.302-61A>T rs115234160 0.02000
NM_000083.3(CLCN1):c.2365-126G>A rs73172436 0.01750
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=) rs78085922 0.01719
NM_000083.3(CLCN1):c.853+214G>T rs73726617 0.01382
NM_000083.3(CLCN1):c.775-268A>T rs73726616 0.01225
NM_000083.3(CLCN1):c.-16C>G rs191902231 0.01167
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg) rs111482384 0.00975
NM_000083.3(CLCN1):c.2596-312T>C rs73172438 0.00944
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr) rs41276054 0.00925
NM_000083.3(CLCN1):c.1797-9C>T rs41276057 0.00913
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536 0.00885
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622 0.00855
NM_000083.3(CLCN1):c.1583-169T>G rs140839699 0.00810
NM_000083.3(CLCN1):c.1472-66T>C rs142982744 0.00808
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077 0.00775
NM_000083.3(CLCN1):c.697-258C>G rs111676448 0.00768
NM_000083.3(CLCN1):c.302-170G>T rs78040569 0.00747
NM_000083.3(CLCN1):c.302-37T>C rs112059687 0.00732
NM_000083.3(CLCN1):c.181-277C>T rs74856857 0.00722
NC_000007.14:g.143315964G>A rs149077179 0.00676
NM_000083.3(CLCN1):c.2596-201C>T rs142195610 0.00676
NM_000083.3(CLCN1):c.2284+42G>A rs79078881 0.00603
NM_000083.3(CLCN1):c.1167-196C>G rs145398452 0.00599
NM_000083.3(CLCN1):c.433+32G>A rs114486957 0.00570
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000083.3(CLCN1):c.2172+105A>C rs139913910 0.00479
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00465
NM_000083.3(CLCN1):c.433+185G>A rs10282576 0.00437
NM_000083.3(CLCN1):c.663G>A (p.Ala221=) rs147317366 0.00424
NM_000083.3(CLCN1):c.1931-200T>C rs114008688 0.00412
NM_000083.3(CLCN1):c.774+464C>T rs188773888 0.00348
NM_000083.3(CLCN1):c.1471+65G>A rs77814083 0.00342
NM_000083.3(CLCN1):c.2403+51T>C rs145468503 0.00315
NM_000083.3(CLCN1):c.-15T>G rs182668076 0.00292
NM_000083.3(CLCN1):c.316C>G (p.Leu106Val) rs145517198 0.00283
NM_000083.3(CLCN1):c.433+78C>T rs146551219 0.00281
NM_000083.3(CLCN1):c.980-135A>G rs73456424 0.00257
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029 0.00231
NM_000083.3(CLCN1):c.2509-3C>T rs375341574 0.00192
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115 0.00187
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732 0.00145
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705 0.00127
NM_000083.3(CLCN1):c.2364+10G>A rs201855153 0.00099
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val) rs139659129 0.00091
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692 0.00080
NM_000083.3(CLCN1):c.1815T>C (p.Val605=) rs141945240 0.00078
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000083.3(CLCN1):c.1582+47G>T rs117080330 0.00067
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932 0.00066
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) rs144612641 0.00054
NM_000083.3(CLCN1):c.633C>T (p.Ala211=) rs138246784 0.00054
NM_000083.3(CLCN1):c.853+17C>A rs201114390 0.00042
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_000083.3(CLCN1):c.1776C>T (p.Asp592=) rs148132102 0.00038
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706 0.00035
NM_000083.3(CLCN1):c.2785A>T (p.Thr929Ser) rs143075418 0.00034
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys) rs139262486 0.00031
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334 0.00030
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000083.3(CLCN1):c.2541C>T (p.His847=) rs146653916 0.00027
NM_000083.3(CLCN1):c.804G>A (p.Thr268=) rs141521078 0.00021
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000083.3(CLCN1):c.314G>A (p.Arg105His) rs756353660 0.00016
NM_000083.3(CLCN1):c.854-1010T>C rs181155092 0.00016
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797 0.00015
NM_000083.3(CLCN1):c.*29C>A rs202172391 0.00014
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331 0.00014
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679 0.00013
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro) rs112282456 0.00013
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) rs202119213 0.00011
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp) rs376026619 0.00011
NM_000083.3(CLCN1):c.2596-9G>T rs200308662 0.00010
NM_000083.3(CLCN1):c.262G>A (p.Val88Met) rs147581794 0.00009
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val) rs969430772 0.00009
NM_000083.3(CLCN1):c.434-4G>A rs368048336 0.00008
NM_000083.3(CLCN1):c.637G>A (p.Val213Met) rs756755417 0.00008
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr) rs189963844 0.00008
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro) rs199610988 0.00007
NM_000083.3(CLCN1):c.120G>C (p.Gly40=) rs200344297 0.00006
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000083.3(CLCN1):c.37C>A (p.Gln13Lys) rs143025648 0.00006
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) rs202019723 0.00005
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=) rs775384507 0.00005
NM_000083.3(CLCN1):c.2848G>A (p.Glu950Lys) rs201506176 0.00005
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358 0.00004
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) rs749205522 0.00004
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) rs767209392 0.00004
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu) rs745329674 0.00004
NM_000083.3(CLCN1):c.264G>A (p.Val88=) rs759188441 0.00004
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) rs762344462 0.00004
NM_000083.3(CLCN1):c.726T>A (p.Cys242Ter) rs757481015 0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg) rs746125212 0.00003
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly) rs1441046956 0.00003
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys) rs767366093 0.00003
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys) rs146469288 0.00003
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr) rs139881658 0.00003
NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs) rs780534566 0.00003
NM_000083.3(CLCN1):c.2596-1G>A rs771721648 0.00003
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358 0.00003
NM_000083.3(CLCN1):c.635T>C (p.Phe212Ser) rs201113768 0.00003
NM_000083.3(CLCN1):c.705C>T (p.Phe235=) rs760323048 0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000083.3(CLCN1):c.1109G>A (p.Arg370His) rs143009041 0.00002
NM_000083.3(CLCN1):c.1393G>A (p.Val465Ile) rs139158852 0.00002
NM_000083.3(CLCN1):c.1550A>T (p.Tyr517Phe) rs755182969 0.00002
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992 0.00002
NM_000083.3(CLCN1):c.1723C>T (p.Pro575Ser) rs766432255 0.00002
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val) rs746346988 0.00002
NM_000083.3(CLCN1):c.1872del (p.Glu624fs) rs1424799320 0.00002
NM_000083.3(CLCN1):c.2287C>A (p.Gln763Lys) rs754581538 0.00002
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter) rs772150974 0.00002
NM_000083.3(CLCN1):c.2462T>C (p.Ile821Thr) rs780727663 0.00002
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile) rs777708543 0.00002
NM_000083.3(CLCN1):c.2822C>T (p.Ser941Phe) rs769053787 0.00002
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe) rs1554434802 0.00002
NM_000083.3(CLCN1):c.774+1G>A rs776073429 0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000083.3(CLCN1):c.829T>C (p.Cys277Arg) rs757109632 0.00002
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025 0.00002
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) rs774396430 0.00002
NM_000083.3(CLCN1):c.100G>A (p.Gly34Arg) rs200889399 0.00001
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559 0.00001
NM_000083.3(CLCN1):c.1016T>C (p.Met339Thr) rs769517790 0.00001
NM_000083.3(CLCN1):c.1060A>G (p.Ile354Val) rs563864511 0.00001
NM_000083.3(CLCN1):c.1061T>G (p.Ile354Ser) rs1682810737 0.00001
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881 0.00001
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760 0.00001
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile) rs147933742 0.00001
NM_000083.3(CLCN1):c.1108C>T (p.Arg370Cys) rs1256013991 0.00001
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) rs201714423 0.00001
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro) rs1023099235 0.00001
NM_000083.3(CLCN1):c.1250A>G (p.Glu417Gly) rs1288398919 0.00001
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1264G>A (p.Glu422Lys) rs889073641 0.00001
NM_000083.3(CLCN1):c.1280T>C (p.Leu427Ser) rs375292685 0.00001
NM_000083.3(CLCN1):c.1310C>T (p.Ala437Val) rs563423438 0.00001
NM_000083.3(CLCN1):c.1342G>A (p.Val448Met) rs200371691 0.00001
NM_000083.3(CLCN1):c.1348A>T (p.Ile450Phe) rs2116855321 0.00001
NM_000083.3(CLCN1):c.1360G>A (p.Val454Ile) rs1410524240 0.00001
NM_000083.3(CLCN1):c.1366G>A (p.Val456Ile) rs922819878 0.00001
NM_000083.3(CLCN1):c.1388T>G (p.Phe463Cys) rs1064796557 0.00001
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539 0.00001
NM_000083.3(CLCN1):c.1401+13A>T rs376582730 0.00001
NM_000083.3(CLCN1):c.1401+1G>T rs769861892 0.00001
NM_000083.3(CLCN1):c.140G>A (p.Arg47Gln) rs747166328 0.00001
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) rs121912801 0.00001
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys) rs1563083476 0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 0.00001
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys) rs546411827 0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696 0.00001
NM_000083.3(CLCN1):c.1663C>T (p.His555Tyr) rs201850090 0.00001
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) rs80356697 0.00001
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile) rs202120426 0.00001
NM_000083.3(CLCN1):c.1727C>G (p.Ser576Cys) rs143825889 0.00001
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His) rs763850295 0.00001
NM_000083.3(CLCN1):c.1857T>C (p.Ser619=) rs1416670894 0.00001
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) rs201894078 0.00001
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu) rs772430525 0.00001
NM_000083.3(CLCN1):c.1922A>G (p.Asp641Gly) rs760693424 0.00001
NM_000083.3(CLCN1):c.1930+1G>A rs771002652 0.00001
NM_000083.3(CLCN1):c.194A>G (p.His65Arg) rs1802376355 0.00001
NM_000083.3(CLCN1):c.209C>T (p.Ser70Leu) rs769312894 0.00001
NM_000083.3(CLCN1):c.2172+1G>T rs1273524525 0.00001
NM_000083.3(CLCN1):c.2233A>G (p.Asn745Asp) rs745586869 0.00001
NM_000083.3(CLCN1):c.2284+3G>A rs755127390 0.00001
NM_000083.3(CLCN1):c.2364+2T>A rs886041384 0.00001
NM_000083.3(CLCN1):c.2365-3T>C rs770158484 0.00001
NM_000083.3(CLCN1):c.2403+5G>A rs1474520642 0.00001
NM_000083.3(CLCN1):c.241A>G (p.Lys81Glu) rs149407148 0.00001
NM_000083.3(CLCN1):c.2533G>C (p.Gly845Arg) rs755433272 0.00001
NM_000083.3(CLCN1):c.2621C>G (p.Thr874Ser) rs776287053 0.00001
NM_000083.3(CLCN1):c.2657G>C (p.Ser886Thr) rs868113642 0.00001
NM_000083.3(CLCN1):c.2663G>A (p.Arg888Gln) rs771890096 0.00001
NM_000083.3(CLCN1):c.2669C>T (p.Thr890Met) rs756135571 0.00001
NM_000083.3(CLCN1):c.2694G>T (p.Gly898=) rs1803411706 0.00001
NM_000083.3(CLCN1):c.2789C>A (p.Pro930His) rs147068247 0.00001
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val) rs1586483178 0.00001
NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter) rs755731058 0.00001
NM_000083.3(CLCN1):c.289T>C (p.Ser97Pro) rs201591839 0.00001
NM_000083.3(CLCN1):c.2938G>A (p.Glu980Lys) rs759576185 0.00001
NM_000083.3(CLCN1):c.302-1G>A rs529377088 0.00001
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603 0.00001
NM_000083.3(CLCN1):c.423A>C (p.Lys141Asn) rs761111883 0.00001
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr) rs140726900 0.00001
NM_000083.3(CLCN1):c.496A>T (p.Thr166Ser) rs1418010822 0.00001
NM_000083.3(CLCN1):c.563-8G>A rs763640926 0.00001
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) rs80356686 0.00001
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685 0.00001
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile) rs769612798 0.00001
NM_000083.3(CLCN1):c.697-1G>A rs773025750 0.00001
NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter) rs561470261 0.00001
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295 0.00001
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) rs770605959 0.00001
NM_000083.3(CLCN1):c.789del (p.Ser264fs) rs770081373 0.00001
NM_000083.3(CLCN1):c.817G>A (p.Val273Met) rs921162119 0.00001
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile) rs759703560 0.00001
NM_000083.3(CLCN1):c.825C>T (p.Val275=) rs947251147 0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys) rs1563078716 0.00001
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) rs1229066957 0.00001
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val) rs1478129213 0.00001
NM_000083.3(CLCN1):c.972G>C (p.Lys324Asn) rs1193395764 0.00001
NC_000007.14:g.143323310del rs1423567292
NM_000083.3(CLCN1):c.-14C>A rs2280663
NM_000083.3(CLCN1):c.-16_-14delinsGGA rs1563071790
NM_000083.3(CLCN1):c.-59C>A rs2487014527
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala) rs2116852900
NM_000083.3(CLCN1):c.1096G>C (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala) rs1085307989
NM_000083.3(CLCN1):c.1129C>G (p.Arg377Gly) rs201714423
NM_000083.3(CLCN1):c.1166+5G>A rs1586497958
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) rs1554436799
NM_000083.3(CLCN1):c.1183_1187del (p.Gly395fs) rs764936586
NM_000083.3(CLCN1):c.1190T>C (p.Val397Ala) rs368958317
NM_000083.3(CLCN1):c.1208C>T (p.Ser403Leu) rs1031770273
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1236A>G (p.Gln412=) rs2116854694
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu) rs780834658
NM_000083.3(CLCN1):c.1264G>T (p.Glu422Ter) rs889073641
NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs) rs752041565
NM_000083.3(CLCN1):c.1287del (p.Asp429fs) rs2116855176
NM_000083.3(CLCN1):c.1290C>T (p.Asn430=) rs2487064785
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg) rs1563080014
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg) rs1027814542
NM_000083.3(CLCN1):c.1315G>T (p.Asp439Tyr)
NM_000083.3(CLCN1):c.1330G>A (p.Gly444Ser) rs2487064995
NM_000083.3(CLCN1):c.1334A>G (p.Gln445Arg) rs1401396816
NM_000083.3(CLCN1):c.1337C>T (p.Ser446Leu)
NM_000083.3(CLCN1):c.1357dup (p.Arg453fs) rs1586499614
NM_000083.3(CLCN1):c.1363A>T (p.Asn455Tyr) rs2487065128
NM_000083.3(CLCN1):c.1400A>T (p.Lys467Met)
NM_000083.3(CLCN1):c.1416C>A (p.Ile472=) rs372034290
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
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.1447G>A (p.Gly483Ser)
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu) rs1312002847
NM_000083.3(CLCN1):c.1454T>G (p.Met485Arg) rs1586507590
NM_000083.3(CLCN1):c.1457del (p.Pro486fs) rs756538708
NM_000083.3(CLCN1):c.1471+5_1471+11del rs2116864882
NM_000083.3(CLCN1):c.1472-56T>A rs6464542
NM_000083.3(CLCN1):c.1474G>A (p.Ala492Thr) rs1803021137
NM_000083.3(CLCN1):c.152G>T (p.Gly51Val)
NM_000083.3(CLCN1):c.1557C>A (p.Ile519=) rs1347911316
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp) rs1460714146
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val) rs1460714146
NM_000083.3(CLCN1):c.1583-13T>A rs2487089731
NM_000083.3(CLCN1):c.1583-62A>C rs117799198
NM_000083.3(CLCN1):c.1591G>A (p.Ala531Thr) rs2487089780
NM_000083.3(CLCN1):c.1616C>T (p.Thr539Ile)
NM_000083.3(CLCN1):c.1616_1617del (p.Thr539fs) rs1554438432
NM_000083.3(CLCN1):c.1627_1628delinsAT (p.Ala543Ile) rs2116372748
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met) rs1554438433
NM_000083.3(CLCN1):c.1648A>G (p.Thr550Ala)
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg) rs762754992
NM_000083.3(CLCN1):c.1652G>A (p.Gly551Asp) rs1563084603
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser) rs1586510615
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr) rs1269268607
NM_000083.3(CLCN1):c.1696G>A (p.Ala566Thr)
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000083.3(CLCN1):c.1712A>G (p.Gln571Arg)
NM_000083.3(CLCN1):c.1730T>G (p.Leu577Arg) rs2116373216
NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter) rs1586510870
NM_000083.3(CLCN1):c.1796G>A (p.Ser599Asn) rs1554438471
NM_000083.3(CLCN1):c.1818G>A (p.Glu606=) rs1803105117
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal) rs2487091697
NM_000083.3(CLCN1):c.1883T>C (p.Leu628Pro)
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro) rs1009716258
NM_000083.3(CLCN1):c.1907C>A (p.Thr636Asn) rs1803111177
NM_000083.3(CLCN1):c.1909_1910del (p.Leu637fs) rs1237554305
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly) rs1803111906
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter) rs1803112361
NM_000083.3(CLCN1):c.1930+3C>G rs1257835431
NM_000083.3(CLCN1):c.1930G>A (p.Asp644Asn) rs1554438576
NM_000083.3(CLCN1):c.2172+1G>A rs1273524525
NM_000083.3(CLCN1):c.2172+62CTGGG[7] rs368460599
NM_000083.3(CLCN1):c.2221C>G (p.Pro741Ala) rs1226988170
NM_000083.3(CLCN1):c.2284+1G>T rs2485436810
NM_000083.3(CLCN1):c.2365-1G>T rs1803265151
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter) rs1131691551
NM_000083.3(CLCN1):c.2404-9G>A rs1803358399
NM_000083.3(CLCN1):c.2416GAGCAG[3] (p.Gln809_Leu810insGluGln) rs1803359070
NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter) rs1554439817
NM_000083.3(CLCN1):c.2461_2464delinsCTCC (p.Ile821_Asp822delinsLeuHis) rs2116396889
NM_000083.3(CLCN1):c.2471C>A (p.Ser824Tyr) rs1803362038
NM_000083.3(CLCN1):c.2492A>G (p.Gln831Arg) rs1439192912
NM_000083.3(CLCN1):c.2508+2T>A rs992259659
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.2540A>T (p.His847Leu)
NM_000083.3(CLCN1):c.2555C>T (p.Thr852Ile) rs2485444877
NM_000083.3(CLCN1):c.2564G>A (p.Gly855Glu) rs1554439879
NM_000083.3(CLCN1):c.2595+139_2595+140del rs35882576
NM_000083.3(CLCN1):c.2595+140del rs35882576
NM_000083.3(CLCN1):c.2595+140dup rs35882576
NM_000083.3(CLCN1):c.2595+163G>C rs185760236
NM_000083.3(CLCN1):c.2595+58G>C rs114841412
NM_000083.3(CLCN1):c.260_261delinsTT (p.Thr87Ile) rs1064796042
NM_000083.3(CLCN1):c.2623A>G (p.Lys875Glu)
NM_000083.3(CLCN1):c.2782G>A (p.Glu928Lys) rs1803416147
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr) rs1448219970
NM_000083.3(CLCN1):c.2800C>T (p.Pro934Ser) rs1168501752
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala) rs574104250
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.2845G>A (p.Gly949Ser)
NM_000083.3(CLCN1):c.2864A>G (p.Glu955Gly) rs150796358
NM_000083.3(CLCN1):c.2882G>A (p.Gly961Glu) rs1803422217
NM_000083.3(CLCN1):c.2933_2934del (p.Thr978fs) rs778865730
NM_000083.3(CLCN1):c.2940G>A (p.Glu980=) rs2485449460
NM_000083.3(CLCN1):c.2959A>C (p.Ile987Leu) rs1482298541
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn) rs1204927357
NM_000083.3(CLCN1):c.302-110TC[14] rs59572880
NM_000083.3(CLCN1):c.302-110TC[15] rs59572880
NM_000083.3(CLCN1):c.302-110TC[17] rs59572880
NM_000083.3(CLCN1):c.302-110TC[18] rs59572880
NM_000083.3(CLCN1):c.302-110TC[20] rs59572880
NM_000083.3(CLCN1):c.302-110TC[22] rs59572880
NM_000083.3(CLCN1):c.364G>A (p.Val122Met) rs528823552
NM_000083.3(CLCN1):c.364G>C (p.Val122Leu) rs528823552
NM_000083.3(CLCN1):c.378dup (p.Leu127fs) rs1320040467
NM_000083.3(CLCN1):c.37C>T (p.Gln13Ter)
NM_000083.3(CLCN1):c.392T>A (p.Val131Asp) rs769391461
NM_000083.3(CLCN1):c.395G>C (p.Ser132Thr) rs775224495
NM_000083.3(CLCN1):c.401G>A (p.Ser134Asn)
NM_000083.3(CLCN1):c.406G>T (p.Asp136Tyr) rs2487029831
NM_000083.3(CLCN1):c.407A>C (p.Asp136Ala) rs2487029840
NM_000083.3(CLCN1):c.410_411delinsGGA (p.Tyr137fs) rs2116836451
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter) rs1586484463
NM_000083.3(CLCN1):c.414C>G (p.Val138=) rs547184431
NM_000083.3(CLCN1):c.416G>A (p.Ser139Asn) rs2487029959
NM_000083.3(CLCN1):c.419C>A (p.Ala140Asp) rs1435631505
NM_000083.3(CLCN1):c.425G>A (p.Ser142Asn)
NM_000083.3(CLCN1):c.433+150G>A rs145068952
NM_000083.3(CLCN1):c.434-1_437del rs1563074191
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.444dup (p.Ser149fs) rs1389779829
NM_000083.3(CLCN1):c.494T>G (p.Val165Gly) rs1586485438
NM_000083.3(CLCN1):c.505C>T (p.Leu169=) rs1183635234
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe) rs992335710
NM_000083.3(CLCN1):c.527C>A (p.Ala176Asp) rs574259784
NM_000083.3(CLCN1):c.562+1G>C rs2116837885
NM_000083.3(CLCN1):c.562G>C (p.Gly188Arg) rs1302735361
NM_000083.3(CLCN1):c.563-9C>A rs201404573
NM_000083.3(CLCN1):c.563G>C (p.Gly188Ala) rs1554434857
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.586A>T (p.Thr196Ser) rs1802442547
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) rs1347382107
NM_000083.3(CLCN1):c.596G>C (p.Arg199Pro) rs2487033838
NM_000083.3(CLCN1):c.61dup (p.Gln21fs) rs2487015403
NM_000083.3(CLCN1):c.632C>G (p.Ala211Gly) rs761511512
NM_000083.3(CLCN1):c.638T>G (p.Val213Gly) rs1586486042
NM_000083.3(CLCN1):c.661G>A (p.Ala221Thr) rs1802445536
NM_000083.3(CLCN1):c.662C>A (p.Ala221Glu) rs748415883
NM_000083.3(CLCN1):c.671G>A (p.Gly224Asp)
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn) rs1802446540
NM_000083.3(CLCN1):c.685G>A (p.Val229Met) rs761601545
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu) rs1586486170
NM_000083.3(CLCN1):c.696G>A (p.Glu232=) rs923380712
NM_000083.3(CLCN1):c.696G>T (p.Glu232Asp) rs923380712
NM_000083.3(CLCN1):c.697-1G>C rs773025750
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu) rs776173406
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala) rs1064794643
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.757T>C (p.Phe253Leu) rs1802494610
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter) rs1802495428
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu) rs1554435319
NM_000083.3(CLCN1):c.799C>T (p.Leu267=) rs1563075864
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.815C>T (p.Ala272Val) rs1563075892
NM_000083.3(CLCN1):c.818T>C (p.Val273Ala) rs1586489367
NM_000083.3(CLCN1):c.824T>C (p.Val275Ala) rs2487043031
NM_000083.3(CLCN1):c.852A>G (p.Gly284=) rs1417532624
NM_000083.3(CLCN1):c.853+5G>A rs1802529065
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.881C>T (p.Ser294Phe) rs2487056994
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter) rs1554436419
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly) rs1554436427
NM_000083.3(CLCN1):c.916T>C (p.Phe306Leu) rs1802702190
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del) rs766116662
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter) rs1337473924
NM_000083.3(CLCN1):c.980-3C>G rs1802714707
NM_000083.3(CLCN1):c.982A>G (p.Thr328Ala)
NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile) rs780421370
NM_000083.3(CLCN1):c.987C>G (p.Ile329Met) rs140664749
NM_000083.3(CLCN1):c.992C>G (p.Ala331Gly) rs2487059000

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