ClinVar Miner

List of variants reported as likely benign for Thomsen and Becker disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 528
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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.2154C>T (p.Asp718=) rs2272251 0.44456
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu) rs13438232 0.39778
NM_000083.3(CLCN1):c.-21C>T rs34904831 0.04948
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536 0.00935
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622 0.00916
NM_000083.3(CLCN1):c.1065-16T>C rs113764654 0.00833
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077 0.00775
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_000083.3(CLCN1):c.663G>A (p.Ala221=) rs147317366 0.00424
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029 0.00231
NM_000083.3(CLCN1):c.2509-3C>T rs375341574 0.00208
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115 0.00187
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705 0.00132
NM_000083.3(CLCN1):c.2364+10G>A rs201855153 0.00098
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val) rs139659129 0.00091
NM_000083.3(CLCN1):c.633C>T (p.Ala211=) rs138246784 0.00056
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) rs144612641 0.00054
NM_000083.3(CLCN1):c.853+17C>A rs201114390 0.00044
NM_000083.3(CLCN1):c.1776C>T (p.Asp592=) rs148132102 0.00038
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.2541C>T (p.His847=) rs146653916 0.00027
NM_000083.3(CLCN1):c.563-9C>T rs201404573 0.00025
NM_000083.3(CLCN1):c.1583-20G>A rs371387287 0.00024
NM_000083.3(CLCN1):c.900G>A (p.Arg300=) rs149578972 0.00022
NM_000083.3(CLCN1):c.804G>A (p.Thr268=) rs141521078 0.00021
NM_000083.3(CLCN1):c.1583-12G>A rs374736253 0.00019
NM_000083.3(CLCN1):c.2028G>A (p.Glu676=) rs543195467 0.00019
NM_000083.3(CLCN1):c.314G>A (p.Arg105His) rs756353660 0.00016
NM_000083.3(CLCN1):c.1310C>T (p.Ala437Val) rs563423438 0.00015
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp) rs146862992 0.00015
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331 0.00014
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679 0.00013
NM_000083.3(CLCN1):c.1402-18C>T rs371600067 0.00011
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro) rs112282456 0.00010
NM_000083.3(CLCN1):c.2596-9G>T rs200308662 0.00010
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) rs202119213 0.00009
NM_000083.3(CLCN1):c.1605C>T (p.Ala535=) rs200676193 0.00009
NM_000083.3(CLCN1):c.2062_2063insTTC (p.Gly688delinsValArg) rs770836890 0.00009
NM_000083.3(CLCN1):c.262G>A (p.Val88Met) rs147581794 0.00009
NM_000083.3(CLCN1):c.434-14A>G rs200263856 0.00009
NM_000083.3(CLCN1):c.24G>A (p.Gln8=) rs150304865 0.00008
NM_000083.3(CLCN1):c.434-4G>A rs368048336 0.00008
NM_000083.3(CLCN1):c.987C>T (p.Ile329=) rs140664749 0.00008
NM_000083.3(CLCN1):c.180+11C>T rs540424567 0.00007
NM_000083.3(CLCN1):c.120G>C (p.Gly40=) rs200344297 0.00006
NM_000083.3(CLCN1):c.2509-14C>G rs761510529 0.00006
NM_000083.3(CLCN1):c.2901C>T (p.Ala967=) rs143082508 0.00006
NM_000083.3(CLCN1):c.345G>A (p.Gly115=) rs755112173 0.00006
NM_000083.3(CLCN1):c.369T>C (p.Leu123=) rs745674068 0.00006
NM_000083.3(CLCN1):c.762C>T (p.Cys254=) rs772027125 0.00006
NM_000083.3(CLCN1):c.957G>A (p.Leu319=) rs746212684 0.00006
NM_000083.3(CLCN1):c.1263C>T (p.Arg421=) rs745472087 0.00005
NM_000083.3(CLCN1):c.1311G>A (p.Ala437=) rs766616816 0.00005
NM_000083.3(CLCN1):c.2124C>T (p.Phe708=) rs769811983 0.00005
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=) rs775384507 0.00005
NM_000083.3(CLCN1):c.2693G>A (p.Gly898Glu) rs149188892 0.00005
NM_000083.3(CLCN1):c.2937C>T (p.Asp979=) rs776873546 0.00005
NM_000083.3(CLCN1):c.853+7G>A rs111386182 0.00005
NM_000083.3(CLCN1):c.1371C>T (p.Val457=) rs368928958 0.00004
NM_000083.3(CLCN1):c.1593G>A (p.Ala531=) rs367696668 0.00004
NM_000083.3(CLCN1):c.2265G>A (p.Pro755=) rs761474906 0.00004
NM_000083.3(CLCN1):c.2833G>A (p.Gly945Ser) rs774199742 0.00004
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) rs762344462 0.00004
NM_000083.3(CLCN1):c.780A>G (p.Pro260=) rs1339281633 0.00004
NM_000083.3(CLCN1):c.1467G>A (p.Val489=) rs773153574 0.00003
NM_000083.3(CLCN1):c.1689T>A (p.Val563=) rs371701131 0.00003
NM_000083.3(CLCN1):c.180+10T>C rs758693006 0.00003
NM_000083.3(CLCN1):c.2097C>T (p.Gly699=) rs778181599 0.00003
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=) rs760793323 0.00003
NM_000083.3(CLCN1):c.33T>C (p.Gly11=) rs780696139 0.00003
NM_000083.3(CLCN1):c.705C>T (p.Phe235=) rs760323048 0.00003
NM_000083.3(CLCN1):c.1416C>T (p.Ile472=) rs372034290 0.00002
NM_000083.3(CLCN1):c.1767C>T (p.Tyr589=) rs746535507 0.00002
NM_000083.3(CLCN1):c.2022C>G (p.Ala674=) rs762947178 0.00002
NM_000083.3(CLCN1):c.2338C>T (p.Arg780Cys) rs138062220 0.00002
NM_000083.3(CLCN1):c.2341C>T (p.Pro781Ser) rs117661165 0.00002
NM_000083.3(CLCN1):c.2509-16T>G rs774042985 0.00002
NM_000083.3(CLCN1):c.2595+8C>T rs760261738 0.00002
NM_000083.3(CLCN1):c.434-5C>T rs1290037207 0.00002
NM_000083.3(CLCN1):c.655C>T (p.Leu219=) rs1427322271 0.00002
NM_000083.3(CLCN1):c.720C>T (p.Ser240=) rs764402957 0.00002
NM_000083.3(CLCN1):c.99C>T (p.Tyr33=) rs138922145 0.00002
NM_000083.3(CLCN1):c.1062C>T (p.Ile354=) rs1014782276 0.00001
NM_000083.3(CLCN1):c.1065-5C>T rs369660130 0.00001
NM_000083.3(CLCN1):c.1107T>C (p.His369=) rs955748180 0.00001
NM_000083.3(CLCN1):c.1308C>T (p.His436=) rs772518279 0.00001
NM_000083.3(CLCN1):c.1401+13A>T rs376582730 0.00001
NM_000083.3(CLCN1):c.1443C>T (p.Cys481=) rs781587827 0.00001
NM_000083.3(CLCN1):c.1471+9T>C rs904183230 0.00001
NM_000083.3(CLCN1):c.1533G>A (p.Leu511=) rs373731688 0.00001
NM_000083.3(CLCN1):c.165C>T (p.Asn55=) rs753251995 0.00001
NM_000083.3(CLCN1):c.1674C>A (p.Pro558=) rs761240483 0.00001
NM_000083.3(CLCN1):c.1863A>G (p.Thr621=) rs369099862 0.00001
NM_000083.3(CLCN1):c.1931-5C>T rs1192488651 0.00001
NM_000083.3(CLCN1):c.1953G>T (p.Ser651=) rs1375543643 0.00001
NM_000083.3(CLCN1):c.1977C>A (p.Ala659=) rs904572417 0.00001
NM_000083.3(CLCN1):c.2148C>T (p.Asp716=) rs773044948 0.00001
NM_000083.3(CLCN1):c.2247T>G (p.Pro749=) rs762200215 0.00001
NM_000083.3(CLCN1):c.2274A>G (p.Pro758=) rs753967995 0.00001
NM_000083.3(CLCN1):c.2284+13C>T rs781213675 0.00001
NM_000083.3(CLCN1):c.2284+19G>A rs769666294 0.00001
NM_000083.3(CLCN1):c.2285-12C>G rs767588787 0.00001
NM_000083.3(CLCN1):c.2339G>A (p.Arg780His) rs529481237 0.00001
NM_000083.3(CLCN1):c.244A>G (p.Thr82Ala) rs772100356 0.00001
NM_000083.3(CLCN1):c.2577C>T (p.Gly859=) rs530181794 0.00001
NM_000083.3(CLCN1):c.2616G>A (p.Gly872=) rs1007992593 0.00001
NM_000083.3(CLCN1):c.302-12A>T rs1802404579 0.00001
NM_000083.3(CLCN1):c.411C>T (p.Tyr137=) rs773806167 0.00001
NM_000083.3(CLCN1):c.433+13T>C rs765455785 0.00001
NM_000083.3(CLCN1):c.453G>A (p.Ala151=) rs147642088 0.00001
NM_000083.3(CLCN1):c.531C>T (p.Leu177=) rs375897422 0.00001
NM_000083.3(CLCN1):c.563-8G>A rs763640926 0.00001
NM_000083.3(CLCN1):c.697-16G>A rs781286294 0.00001
NM_000083.3(CLCN1):c.697-9C>A rs201207110 0.00001
NM_000083.3(CLCN1):c.69G>A (p.Gln23=) rs760729130 0.00001
NM_000083.3(CLCN1):c.756G>A (p.Val252=) rs886062034 0.00001
NM_000083.3(CLCN1):c.861A>G (p.Leu287=) rs771454498 0.00001
NM_000083.3(CLCN1):c.975T>C (p.Asp325=) rs1243380901 0.00001
NM_000083.3(CLCN1):c.1005C>A (p.Thr335=) rs1802715432
NM_000083.3(CLCN1):c.1032C>T (p.Asp344=) rs1802716501
NM_000083.3(CLCN1):c.1033C>T (p.Leu345=)
NM_000083.3(CLCN1):c.105G>C (p.Leu35=)
NM_000083.3(CLCN1):c.1064+10G>T
NM_000083.3(CLCN1):c.1064+17G>C
NM_000083.3(CLCN1):c.1064+19T>C
NM_000083.3(CLCN1):c.1064+20C>G
NM_000083.3(CLCN1):c.1065-13dup rs2116853321
NM_000083.3(CLCN1):c.1065-15A>G
NM_000083.3(CLCN1):c.1065-17A>C
NM_000083.3(CLCN1):c.1080C>T (p.Leu360=)
NM_000083.3(CLCN1):c.1081C>T (p.Leu361=)
NM_000083.3(CLCN1):c.1083G>C (p.Leu361=)
NM_000083.3(CLCN1):c.1086A>T (p.Gly362=)
NM_000083.3(CLCN1):c.108C>G (p.Pro36=)
NM_000083.3(CLCN1):c.108C>T (p.Pro36=) rs749833088
NM_000083.3(CLCN1):c.1092A>G (p.Val364=)
NM_000083.3(CLCN1):c.1116C>T (p.Val372=)
NM_000083.3(CLCN1):c.1128C>G (p.Val376=)
NM_000083.3(CLCN1):c.1131A>G (p.Arg377=)
NM_000083.3(CLCN1):c.1134G>A (p.Lys378=)
NM_000083.3(CLCN1):c.1158T>G (p.Leu386=)
NM_000083.3(CLCN1):c.1166+10T>A
NM_000083.3(CLCN1):c.1166+10T>C
NM_000083.3(CLCN1):c.1166+15T>G
NM_000083.3(CLCN1):c.1166+17C>G
NM_000083.3(CLCN1):c.1166+19T>C
NM_000083.3(CLCN1):c.1167-14dup
NM_000083.3(CLCN1):c.1167-15C>T
NM_000083.3(CLCN1):c.1167-16T>G
NM_000083.3(CLCN1):c.1173G>A (p.Leu391=)
NM_000083.3(CLCN1):c.1176G>A (p.Leu392=) rs199898178
NM_000083.3(CLCN1):c.1176G>C (p.Leu392=)
NM_000083.3(CLCN1):c.1182T>C (p.Pro394=)
NM_000083.3(CLCN1):c.1185A>G (p.Gly395=)
NM_000083.3(CLCN1):c.120G>A (p.Gly40=)
NM_000083.3(CLCN1):c.1215C>T (p.Thr405=)
NM_000083.3(CLCN1):c.1233T>C (p.Gly411=)
NM_000083.3(CLCN1):c.1236A>G (p.Gln412=) rs2116854694
NM_000083.3(CLCN1):c.1251+11G>T rs780748786
NM_000083.3(CLCN1):c.1251+12G>T
NM_000083.3(CLCN1):c.1251+14G>A rs1027351084
NM_000083.3(CLCN1):c.1251+17G>A
NM_000083.3(CLCN1):c.1251+9T>C
NM_000083.3(CLCN1):c.1252-10C>T
NM_000083.3(CLCN1):c.1252-7C>T
NM_000083.3(CLCN1):c.1290C>T (p.Asn430=)
NM_000083.3(CLCN1):c.1296A>G (p.Thr432=)
NM_000083.3(CLCN1):c.1314T>G (p.Gly438=)
NM_000083.3(CLCN1):c.1329G>A (p.Leu443=)
NM_000083.3(CLCN1):c.132C>T (p.His44=) rs2116829588
NM_000083.3(CLCN1):c.1353C>T (p.His451=)
NM_000083.3(CLCN1):c.1359G>A (p.Arg453=)
NM_000083.3(CLCN1):c.1359G>T (p.Arg453=)
NM_000083.3(CLCN1):c.135G>A (p.Arg45=)
NM_000083.3(CLCN1):c.1365C>T (p.Asn455=)
NM_000083.3(CLCN1):c.1401+11T>G
NM_000083.3(CLCN1):c.1401+19_1401+20insTG
NM_000083.3(CLCN1):c.1401+20C>A
NM_000083.3(CLCN1):c.1401+20C>T
NM_000083.3(CLCN1):c.1401+7_1401+12dup
NM_000083.3(CLCN1):c.1401+9C>T
NM_000083.3(CLCN1):c.1402-16C>T
NM_000083.3(CLCN1):c.1402-17G>A
NM_000083.3(CLCN1):c.1402-19A>G
NM_000083.3(CLCN1):c.1402-4C>A
NM_000083.3(CLCN1):c.1402-9_1402-8delinsTC rs2116864660
NM_000083.3(CLCN1):c.1428T>C (p.Thr476=)
NM_000083.3(CLCN1):c.1434C>A (p.Pro478=)
NM_000083.3(CLCN1):c.1449C>T (p.Gly483=) rs2116864808
NM_000083.3(CLCN1):c.144G>A (p.Lys48=) rs560922211
NM_000083.3(CLCN1):c.1461G>A (p.Val487=)
NM_000083.3(CLCN1):c.1471+11A>T
NM_000083.3(CLCN1):c.1471+13G>A
NM_000083.3(CLCN1):c.1471+14G>A
NM_000083.3(CLCN1):c.1471+15G>A
NM_000083.3(CLCN1):c.1471+15G>T
NM_000083.3(CLCN1):c.1471+17A>G
NM_000083.3(CLCN1):c.1471+20C>T
NM_000083.3(CLCN1):c.1472-14T>C
NM_000083.3(CLCN1):c.1472-18C>T
NM_000083.3(CLCN1):c.1472-19C>T
NM_000083.3(CLCN1):c.1472-6C>T rs1380393304
NM_000083.3(CLCN1):c.1472-8C>A
NM_000083.3(CLCN1):c.1476T>C (p.Ala492=)
NM_000083.3(CLCN1):c.147T>C (p.Asp49=) rs1586479527
NM_000083.3(CLCN1):c.1482T>C (p.Phe494=) rs745690349
NM_000083.3(CLCN1):c.1500A>G (p.Glu500=)
NM_000083.3(CLCN1):c.1509C>T (p.Ala503=)
NM_000083.3(CLCN1):c.1515C>G (p.Leu505=)
NM_000083.3(CLCN1):c.1515C>T (p.Leu505=) rs1285977938
NM_000083.3(CLCN1):c.1536T>C (p.Phe512=)
NM_000083.3(CLCN1):c.1545C>T (p.Ile515=)
NM_000083.3(CLCN1):c.156C>T (p.Pro52=) rs886062032
NM_000083.3(CLCN1):c.1572T>C (p.Tyr524=)
NM_000083.3(CLCN1):c.1582+12T>A
NM_000083.3(CLCN1):c.1582+14C>A
NM_000083.3(CLCN1):c.1582+17C>T
NM_000083.3(CLCN1):c.1582+7A>T rs1586508119
NM_000083.3(CLCN1):c.1583-10G>A
NM_000083.3(CLCN1):c.1583-12G>C
NM_000083.3(CLCN1):c.1583-15C>A
NM_000083.3(CLCN1):c.15G>T (p.Arg5=)
NM_000083.3(CLCN1):c.1641C>T (p.Phe547=)
NM_000083.3(CLCN1):c.1647A>G (p.Leu549=)
NM_000083.3(CLCN1):c.1662T>C (p.Ala554=)
NM_000083.3(CLCN1):c.168C>T (p.Val56=) rs2116829709
NM_000083.3(CLCN1):c.1695G>A (p.Leu565=)
NM_000083.3(CLCN1):c.1698C>T (p.Ala566=)
NM_000083.3(CLCN1):c.1701C>T (p.Asn567=)
NM_000083.3(CLCN1):c.1707G>A (p.Val569=)
NM_000083.3(CLCN1):c.1707G>T (p.Val569=)
NM_000083.3(CLCN1):c.1717C>T (p.Leu573=)
NM_000083.3(CLCN1):c.1719G>T (p.Leu573=)
NM_000083.3(CLCN1):c.1722G>A (p.Gln574=)
NM_000083.3(CLCN1):c.1731C>G (p.Leu577=)
NM_000083.3(CLCN1):c.1734T>C (p.Tyr578=)
NM_000083.3(CLCN1):c.1740C>T (p.Ser580=)
NM_000083.3(CLCN1):c.174C>G (p.Pro58=) rs1586479588
NM_000083.3(CLCN1):c.1770G>A (p.Leu590=)
NM_000083.3(CLCN1):c.1779T>C (p.Leu593=)
NM_000083.3(CLCN1):c.177A>G (p.Thr59=) rs1586479596
NM_000083.3(CLCN1):c.1788C>T (p.Asn596=)
NM_000083.3(CLCN1):c.1796+15A>G
NM_000083.3(CLCN1):c.1796+16C>T
NM_000083.3(CLCN1):c.1796+17G>A
NM_000083.3(CLCN1):c.1796+7G>A
NM_000083.3(CLCN1):c.1796+7G>C
NM_000083.3(CLCN1):c.1796+8G>A
NM_000083.3(CLCN1):c.1796+8G>T
NM_000083.3(CLCN1):c.1797-18T>C
NM_000083.3(CLCN1):c.1797-19A>G
NM_000083.3(CLCN1):c.1797-20C>G
NM_000083.3(CLCN1):c.180+12T>C
NM_000083.3(CLCN1):c.180+18G>A
NM_000083.3(CLCN1):c.180+18G>C
NM_000083.3(CLCN1):c.180+8G>T
NM_000083.3(CLCN1):c.1800A>G (p.Lys600=)
NM_000083.3(CLCN1):c.1806C>T (p.Thr602=) rs767752623
NM_000083.3(CLCN1):c.181-12C>G
NM_000083.3(CLCN1):c.181-14C>G
NM_000083.3(CLCN1):c.1812T>C (p.Phe604=)
NM_000083.3(CLCN1):c.1839G>C (p.Val613=)
NM_000083.3(CLCN1):c.1869G>A (p.Gly623=)
NM_000083.3(CLCN1):c.1881C>A (p.Thr627=)
NM_000083.3(CLCN1):c.1887C>A (p.Leu629=)
NM_000083.3(CLCN1):c.189C>A (p.Gly63=) rs2116834513
NM_000083.3(CLCN1):c.18A>G (p.Ser6=)
NM_000083.3(CLCN1):c.1902C>G (p.Val634=)
NM_000083.3(CLCN1):c.1909T>C (p.Leu637=)
NM_000083.3(CLCN1):c.1930+15A>G
NM_000083.3(CLCN1):c.1930+16G>A
NM_000083.3(CLCN1):c.1930+7G>A
NM_000083.3(CLCN1):c.1930+8G>A
NM_000083.3(CLCN1):c.1931-16C>T
NM_000083.3(CLCN1):c.1931-20A>C
NM_000083.3(CLCN1):c.1942C>T (p.Leu648=)
NM_000083.3(CLCN1):c.1960C>A (p.Arg654=)
NM_000083.3(CLCN1):c.1962G>A (p.Arg654=)
NM_000083.3(CLCN1):c.1965G>A (p.Ser655=) rs1445646671
NM_000083.3(CLCN1):c.1980C>T (p.Leu660=)
NM_000083.3(CLCN1):c.2005C>A (p.Arg669Ser) rs748537564
NM_000083.3(CLCN1):c.2007C>G (p.Arg669=) rs2116383865
NM_000083.3(CLCN1):c.2007C>T (p.Arg669=)
NM_000083.3(CLCN1):c.2013G>A (p.Leu671=)
NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro) rs200385034
NM_000083.3(CLCN1):c.2046G>C (p.Ser682=) rs1803216040
NM_000083.3(CLCN1):c.204A>G (p.Gln68=) rs1802376686
NM_000083.3(CLCN1):c.2052G>A (p.Leu684=)
NM_000083.3(CLCN1):c.2058C>T (p.Tyr686=)
NM_000083.3(CLCN1):c.2061C>T (p.Asp687=)
NM_000083.3(CLCN1):c.207C>T (p.Phe69=)
NM_000083.3(CLCN1):c.2082G>A (p.Gly694=)
NM_000083.3(CLCN1):c.2082G>T (p.Gly694=)
NM_000083.3(CLCN1):c.2091C>T (p.Leu697=)
NM_000083.3(CLCN1):c.2094C>T (p.Pro698=) rs758874120
NM_000083.3(CLCN1):c.2097C>A (p.Gly699=)
NM_000083.3(CLCN1):c.2097C>G (p.Gly699=) rs778181599
NM_000083.3(CLCN1):c.2100G>T (p.Ala700=)
NM_000083.3(CLCN1):c.2106A>G (p.Pro702=)
NM_000083.3(CLCN1):c.2115C>G (p.Pro705=)
NM_000083.3(CLCN1):c.2160T>C (p.Ser720=)
NM_000083.3(CLCN1):c.2166G>A (p.Lys722=)
NM_000083.3(CLCN1):c.2172+8_2172+9insA
NM_000083.3(CLCN1):c.2172+9G>A
NM_000083.3(CLCN1):c.2173-14dup
NM_000083.3(CLCN1):c.2173-15T>A
NM_000083.3(CLCN1):c.2173-16T>C
NM_000083.3(CLCN1):c.2173-17C>T
NM_000083.3(CLCN1):c.2193C>T (p.Leu731=)
NM_000083.3(CLCN1):c.219G>A (p.Glu73=)
NM_000083.3(CLCN1):c.2238G>C (p.Gly746=)
NM_000083.3(CLCN1):c.2242C>T (p.Leu748=) rs1803240251
NM_000083.3(CLCN1):c.2250C>G (p.Gly750=)
NM_000083.3(CLCN1):c.2284+12C>G rs1472307602
NM_000083.3(CLCN1):c.2284+12C>T
NM_000083.3(CLCN1):c.2284+7C>G
NM_000083.3(CLCN1):c.2285-10G>A
NM_000083.3(CLCN1):c.2285-13C>T
NM_000083.3(CLCN1):c.2285-15C>A rs758496771
NM_000083.3(CLCN1):c.2285-5C>G
NM_000083.3(CLCN1):c.2285-5C>T
NM_000083.3(CLCN1):c.2285-7C>T
NM_000083.3(CLCN1):c.2285-8C>T
NM_000083.3(CLCN1):c.228A>C (p.Ile76=)
NM_000083.3(CLCN1):c.2295C>T (p.Pro765=) rs370616385
NM_000083.3(CLCN1):c.2304C>T (p.Phe768=)
NM_000083.3(CLCN1):c.2328G>T (p.Leu776=)
NM_000083.3(CLCN1):c.2361C>T (p.Thr787=)
NM_000083.3(CLCN1):c.2364+13G>A
NM_000083.3(CLCN1):c.2364+13G>T
NM_000083.3(CLCN1):c.2364+20G>A
NM_000083.3(CLCN1):c.2364+7G>C
NM_000083.3(CLCN1):c.2364+8G>A
NM_000083.3(CLCN1):c.2365-12T>C
NM_000083.3(CLCN1):c.2365-14T>C
NM_000083.3(CLCN1):c.2365-20C>T
NM_000083.3(CLCN1):c.237C>T (p.Pro79=)
NM_000083.3(CLCN1):c.2388C>T (p.Asn796=) rs1586517500
NM_000083.3(CLCN1):c.2403+14A>C
NM_000083.3(CLCN1):c.2404-14C>A
NM_000083.3(CLCN1):c.2404-7C>T rs2116396569
NM_000083.3(CLCN1):c.2409G>A (p.Glu803=)
NM_000083.3(CLCN1):c.2418G>A (p.Glu806=)
NM_000083.3(CLCN1):c.2433C>T (p.Ser811=)
NM_000083.3(CLCN1):c.2439T>C (p.Pro813=)
NM_000083.3(CLCN1):c.2442C>T (p.Val814=)
NM_000083.3(CLCN1):c.2448T>C (p.Phe816=)
NM_000083.3(CLCN1):c.2460T>C (p.Cys820=)
NM_000083.3(CLCN1):c.2463T>C (p.Ile821=)
NM_000083.3(CLCN1):c.2469G>A (p.Gln823=)
NM_000083.3(CLCN1):c.2499C>G (p.Thr833=)
NM_000083.3(CLCN1):c.2508+11T>G rs1391949112
NM_000083.3(CLCN1):c.2508+12G>A
NM_000083.3(CLCN1):c.2508+12G>C
NM_000083.3(CLCN1):c.2508+20C>T
NM_000083.3(CLCN1):c.2508+7del
NM_000083.3(CLCN1):c.2509-9C>T
NM_000083.3(CLCN1):c.2517C>G (p.Thr839=)
NM_000083.3(CLCN1):c.2526A>G (p.Ser842=)
NM_000083.3(CLCN1):c.2532T>C (p.Leu844=)
NM_000083.3(CLCN1):c.2535C>T (p.Gly845=) rs1803368206
NM_000083.3(CLCN1):c.2538C>T (p.Leu846=)
NM_000083.3(CLCN1):c.2565G>A (p.Gly855=)
NM_000083.3(CLCN1):c.2571C>G (p.Leu857=)
NM_000083.3(CLCN1):c.2577C>G (p.Gly859=)
NM_000083.3(CLCN1):c.2580C>A (p.Val860=)
NM_000083.3(CLCN1):c.2592G>A (p.Glu864=) rs2116397844
NM_000083.3(CLCN1):c.2595+17C>A
NM_000083.3(CLCN1):c.2595+18C>T
NM_000083.3(CLCN1):c.2595+9G>A
NM_000083.3(CLCN1):c.2596-16T>A
NM_000083.3(CLCN1):c.2596-4T>G rs2116401020
NM_000083.3(CLCN1):c.2596-7T>C rs2116401011
NM_000083.3(CLCN1):c.2596-8C>T
NM_000083.3(CLCN1):c.2596-9G>C rs200308662
NM_000083.3(CLCN1):c.2607C>T (p.Ala869=) rs2116401054
NM_000083.3(CLCN1):c.2610T>A (p.Ile870=)
NM_000083.3(CLCN1):c.2610T>C (p.Ile870=)
NM_000083.3(CLCN1):c.261C>A (p.Thr87=)
NM_000083.3(CLCN1):c.2622C>G (p.Thr874=)
NM_000083.3(CLCN1):c.2625G>A (p.Lys875=) rs765869908
NM_000083.3(CLCN1):c.2649C>T (p.Pro883=)
NM_000083.3(CLCN1):c.2652T>G (p.Leu884=) rs2116401321
NM_000083.3(CLCN1):c.2670G>A (p.Thr890=)
NM_000083.3(CLCN1):c.2680C>A (p.Arg894=) rs55960271
NM_000083.3(CLCN1):c.2691C>T (p.Thr897=) rs777416660
NM_000083.3(CLCN1):c.2700T>A (p.Pro900=)
NM_000083.3(CLCN1):c.2730T>C (p.Pro910=)
NM_000083.3(CLCN1):c.273G>A (p.Lys91=)
NM_000083.3(CLCN1):c.2757A>G (p.Thr919=)
NM_000083.3(CLCN1):c.2772T>A (p.Ala924=)
NM_000083.3(CLCN1):c.2778C>T (p.Ser926=)
NM_000083.3(CLCN1):c.2796A>C (p.Pro932=)
NM_000083.3(CLCN1):c.2799T>G (p.Ser933=)
NM_000083.3(CLCN1):c.2805C>T (p.Ser935=) rs2116402077
NM_000083.3(CLCN1):c.2814C>T (p.Pro938=)
NM_000083.3(CLCN1):c.2847C>A (p.Gly949=)
NM_000083.3(CLCN1):c.285C>T (p.His95=)
NM_000083.3(CLCN1):c.2862G>A (p.Leu954=)
NM_000083.3(CLCN1):c.2874G>A (p.Glu958=)
NM_000083.3(CLCN1):c.2880A>G (p.Pro960=)
NM_000083.3(CLCN1):c.2889A>G (p.Glu963=)
NM_000083.3(CLCN1):c.2892G>A (p.Glu964=)
NM_000083.3(CLCN1):c.2896C>T (p.Leu966=)
NM_000083.3(CLCN1):c.2898G>A (p.Leu966=)
NM_000083.3(CLCN1):c.2901C>A (p.Ala967=)
NM_000083.3(CLCN1):c.2904C>T (p.Asp968=)
NM_000083.3(CLCN1):c.2940G>A (p.Glu980=)
NM_000083.3(CLCN1):c.2961C>T (p.Ile987=)
NM_000083.3(CLCN1):c.301+13G>A
NM_000083.3(CLCN1):c.301+14A>G
NM_000083.3(CLCN1):c.302-13C>T
NM_000083.3(CLCN1):c.302-17C>T
NM_000083.3(CLCN1):c.302-18T>C
NM_000083.3(CLCN1):c.302-20T>G
NM_000083.3(CLCN1):c.302-44_302-18del
NM_000083.3(CLCN1):c.302-5C>T
NM_000083.3(CLCN1):c.302-8C>T
NM_000083.3(CLCN1):c.302-9T>G
NM_000083.3(CLCN1):c.324G>A (p.Gln108=)
NM_000083.3(CLCN1):c.330G>A (p.Val110=)
NM_000083.3(CLCN1):c.342A>G (p.Leu114=)
NM_000083.3(CLCN1):c.375A>C (p.Gly125=) rs2116836367
NM_000083.3(CLCN1):c.379C>T (p.Leu127=)
NM_000083.3(CLCN1):c.393C>T (p.Val131=)
NM_000083.3(CLCN1):c.402C>T (p.Ser134=) rs748875679
NM_000083.3(CLCN1):c.414C>T (p.Val138=)
NM_000083.3(CLCN1):c.433+11C>A
NM_000083.3(CLCN1):c.433+12C>A
NM_000083.3(CLCN1):c.433+18C>T
NM_000083.3(CLCN1):c.434-10G>A rs566067406
NM_000083.3(CLCN1):c.434-14A>C
NM_000083.3(CLCN1):c.434-4G>C
NM_000083.3(CLCN1):c.434-6C>T
NM_000083.3(CLCN1):c.441G>A (p.Lys147=)
NM_000083.3(CLCN1):c.447C>T (p.Ser149=)
NM_000083.3(CLCN1):c.498C>T (p.Thr166=)
NM_000083.3(CLCN1):c.504A>G (p.Pro168=)
NM_000083.3(CLCN1):c.513C>T (p.Leu171=)
NM_000083.3(CLCN1):c.519C>T (p.Leu173=)
NM_000083.3(CLCN1):c.525C>T (p.Ser175=)
NM_000083.3(CLCN1):c.549T>G (p.Ser183=)
NM_000083.3(CLCN1):c.555G>A (p.Gln185=)
NM_000083.3(CLCN1):c.562+15C>T
NM_000083.3(CLCN1):c.562+18G>T
NM_000083.3(CLCN1):c.562+19A>C
NM_000083.3(CLCN1):c.563-17T>C
NM_000083.3(CLCN1):c.563-19A>G
NM_000083.3(CLCN1):c.576C>T (p.Pro192=)
NM_000083.3(CLCN1):c.57C>T (p.Asp19=)
NM_000083.3(CLCN1):c.606C>A (p.Val202=)
NM_000083.3(CLCN1):c.612G>A (p.Lys204=) rs775413124
NM_000083.3(CLCN1):c.630A>G (p.Lys210=)
NM_000083.3(CLCN1):c.642C>G (p.Ala214=)
NM_000083.3(CLCN1):c.663G>C (p.Ala221=) rs147317366
NM_000083.3(CLCN1):c.678C>T (p.Gly226=)
NM_000083.3(CLCN1):c.684C>G (p.Pro228=)
NM_000083.3(CLCN1):c.684C>T (p.Pro228=)
NM_000083.3(CLCN1):c.687G>A (p.Val229=)
NM_000083.3(CLCN1):c.696+14G>A
NM_000083.3(CLCN1):c.696+14G>T
NM_000083.3(CLCN1):c.696+16C>G
NM_000083.3(CLCN1):c.696+20A>C
NM_000083.3(CLCN1):c.697-12C>T
NM_000083.3(CLCN1):c.697-13C>A
NM_000083.3(CLCN1):c.697-15C>A
NM_000083.3(CLCN1):c.697-15C>T
NM_000083.3(CLCN1):c.697-17C>T
NM_000083.3(CLCN1):c.697-19C>T
NM_000083.3(CLCN1):c.697-7C>T
NM_000083.3(CLCN1):c.697-9C>G
NM_000083.3(CLCN1):c.702C>T (p.Pro234=)
NM_000083.3(CLCN1):c.732T>A (p.Ala244=) rs1195242619
NM_000083.3(CLCN1):c.732T>C (p.Ala244=)
NM_000083.3(CLCN1):c.765G>A (p.Gly255=)
NM_000083.3(CLCN1):c.768A>G (p.Val256=)
NM_000083.3(CLCN1):c.771T>C (p.Tyr257=)
NM_000083.3(CLCN1):c.774+13C>G
NM_000083.3(CLCN1):c.775-10C>T
NM_000083.3(CLCN1):c.775-12C>T
NM_000083.3(CLCN1):c.775-14C>T
NM_000083.3(CLCN1):c.775-16G>C
NM_000083.3(CLCN1):c.775-6T>C
NM_000083.3(CLCN1):c.775-7C>T
NM_000083.3(CLCN1):c.775-8C>T
NM_000083.3(CLCN1):c.795T>C (p.Asp265=)
NM_000083.3(CLCN1):c.825C>T (p.Val275=)
NM_000083.3(CLCN1):c.853+13C>A
NM_000083.3(CLCN1):c.853+13C>T
NM_000083.3(CLCN1):c.853+14C>A
NM_000083.3(CLCN1):c.853+14C>T
NM_000083.3(CLCN1):c.853+16C>G
NM_000083.3(CLCN1):c.853+19C>A rs748877906
NM_000083.3(CLCN1):c.853+19C>T
NM_000083.3(CLCN1):c.854-17C>T
NM_000083.3(CLCN1):c.854-18A>G
NM_000083.3(CLCN1):c.854-4G>A
NM_000083.3(CLCN1):c.854-9C>G
NM_000083.3(CLCN1):c.870C>T (p.Ile290=)
NM_000083.3(CLCN1):c.873G>A (p.Glu291=)
NM_000083.3(CLCN1):c.894T>C (p.Ala298=)
NM_000083.3(CLCN1):c.897T>C (p.Val299=)
NM_000083.3(CLCN1):c.930G>A (p.Thr310=)
NM_000083.3(CLCN1):c.936C>T (p.Ser312=)
NM_000083.3(CLCN1):c.945G>T (p.Val315=)
NM_000083.3(CLCN1):c.954G>A (p.Val318=)
NM_000083.3(CLCN1):c.954G>T (p.Val318=)
NM_000083.3(CLCN1):c.963G>A (p.Val321=)
NM_000083.3(CLCN1):c.969C>T (p.Asn323=)
NM_000083.3(CLCN1):c.979+12G>T
NM_000083.3(CLCN1):c.979+20G>A
NM_000083.3(CLCN1):c.979+9G>A
NM_000083.3(CLCN1):c.980-10C>T
NM_000083.3(CLCN1):c.980-15C>A
NM_000083.3(CLCN1):c.980-16C>T
NM_000083.3(CLCN1):c.980-17G>T
NM_000083.3(CLCN1):c.980-18G>C
NM_000083.3(CLCN1):c.980-20C>G
NM_000083.3(CLCN1):c.980-20C>T
NM_000083.3(CLCN1):c.980-4A>G
NM_000083.3(CLCN1):c.980-5T>C
NM_000083.3(CLCN1):c.980-8T>C
NM_000083.3(CLCN1):c.984C>G (p.Thr328=)
NM_000083.3(CLCN1):c.990T>C (p.Thr330=)
NM_000083.3(CLCN1):c.993T>C (p.Ala331=) rs2116852879
NM_000083.3(CLCN1):c.9A>G (p.Gln3=)

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