ClinVar Miner

List of variants in gene CLCN4 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 578
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HGVS dbSNP gnomAD frequency
NM_001830.4(CLCN4):c.555+97A>C rs2240019 0.47743
NM_001830.4(CLCN4):c.*156A>G rs5933825 0.42128
NM_001830.4(CLCN4):c.1390-208C>T rs2301691 0.29560
NM_001830.4(CLCN4):c.144+158A>G rs2073938 0.20307
NM_001830.4(CLCN4):c.1576+156C>T rs7065191 0.19386
NM_001830.4(CLCN4):c.1437G>A (p.Ala479=) rs34148950 0.11804
NM_001830.4(CLCN4):c.556-12C>T rs5934810 0.09817
NM_001830.4(CLCN4):c.1389+151A>G rs4830705 0.09808
NM_001830.4(CLCN4):c.432+119C>T rs57273845 0.04044
NM_001830.4(CLCN4):c.1975+294T>C rs73632638 0.03118
NM_001830.4(CLCN4):c.844-163C>T rs145890739 0.02180
NM_001830.4(CLCN4):c.1389+80G>A rs147764844 0.02170
NM_001830.4(CLCN4):c.556-259G>A rs139752824 0.02170
NM_001830.4(CLCN4):c.*93T>C rs17321350 0.02166
NM_001830.4(CLCN4):c.432+40G>A rs144670859 0.01612
NM_001830.4(CLCN4):c.1390-4C>T rs141271427 0.00900
NM_001830.4(CLCN4):c.288G>A (p.Thr96=) rs2106801 0.00804
NM_001830.4(CLCN4):c.244+4C>G rs192492405 0.00750
NM_001830.4(CLCN4):c.145-42G>A rs188033970 0.00740
NM_001830.4(CLCN4):c.2184G>A (p.Thr728=) rs34200704 0.00526
NM_001830.4(CLCN4):c.245-289A>G rs186898226 0.00502
NM_001830.4(CLCN4):c.1758G>A (p.Val586=) rs143437511 0.00287
NM_001830.4(CLCN4):c.1458C>T (p.Gly486=) rs138602675 0.00094
NM_001830.4(CLCN4):c.2031G>A (p.Thr677=) rs149158671 0.00092
NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met) rs41297324 0.00083
NM_001830.4(CLCN4):c.1548C>T (p.Tyr516=) rs111332758 0.00077
NM_001830.4(CLCN4):c.1575C>T (p.Leu525=) rs112652769 0.00063
NM_001830.4(CLCN4):c.244+18C>T rs763425301 0.00047
NM_001830.4(CLCN4):c.1062C>T (p.Ile354=) rs143683486 0.00045
NM_001830.4(CLCN4):c.747G>A (p.Glu249=) rs143534990 0.00037
NM_001830.4(CLCN4):c.1479T>C (p.His493=) rs112542881 0.00026
NM_001830.4(CLCN4):c.1863C>T (p.Asp621=) rs36049237 0.00025
NM_001830.4(CLCN4):c.363C>G (p.Thr121=) rs190803102 0.00022
NM_001830.4(CLCN4):c.1107G>A (p.Pro369=) rs755821176 0.00021
NM_001830.4(CLCN4):c.264C>T (p.Ile88=) rs749839151 0.00019
NM_001830.4(CLCN4):c.78G>A (p.Thr26=) rs371533172 0.00019
NM_001830.4(CLCN4):c.145-4C>A rs202245864 0.00014
NM_001830.4(CLCN4):c.1647C>A (p.Ile549=) rs139942006 0.00014
NM_001830.4(CLCN4):c.1830G>A (p.Ser610=) rs376194407 0.00012
NM_001830.4(CLCN4):c.245-19C>G rs370126726 0.00012
NM_001830.4(CLCN4):c.556-9C>T rs375805479 0.00012
NM_001830.4(CLCN4):c.651C>T (p.Ser217=) rs199958606 0.00012
NM_001830.4(CLCN4):c.975G>A (p.Thr325=) rs73483205 0.00012
NM_001830.4(CLCN4):c.1395G>A (p.Pro465=) rs150240935 0.00011
NM_001830.4(CLCN4):c.210A>T (p.Gly70=) rs147134396 0.00011
NM_001830.4(CLCN4):c.1363G>A (p.Val455Ile) rs369733340 0.00010
NM_001830.4(CLCN4):c.1764C>T (p.Asp588=) rs763456840 0.00010
NM_001830.4(CLCN4):c.1857C>T (p.Val619=) rs368976923 0.00010
NM_001830.4(CLCN4):c.306C>G (p.Val102=) rs150746088 0.00010
NM_001830.4(CLCN4):c.1629C>T (p.Thr543=) rs765796078 0.00009
NM_001830.4(CLCN4):c.1937T>C (p.Ile646Thr) rs747118105 0.00009
NM_001830.4(CLCN4):c.763-18G>T rs764223933 0.00009
NM_001830.4(CLCN4):c.1871C>T (p.Thr624Met) rs751105638 0.00008
NM_001830.4(CLCN4):c.2283G>A (p.Ter761=) rs772900688 0.00008
NM_001830.4(CLCN4):c.432+29G>A rs373246544 0.00008
NM_001830.4(CLCN4):c.165G>A (p.Glu55=) rs781599689 0.00007
NM_001830.4(CLCN4):c.1008C>A (p.Ile336=) rs932355665 0.00006
NM_001830.4(CLCN4):c.1390-11G>A rs367593511 0.00006
NM_001830.4(CLCN4):c.1566G>A (p.Ala522=) rs775103186 0.00006
NM_001830.4(CLCN4):c.433-13G>A rs752787312 0.00006
NM_001830.4(CLCN4):c.1185C>T (p.Ser395=) rs761467131 0.00005
NM_001830.4(CLCN4):c.1299G>A (p.Pro433=) rs1008267062 0.00005
NM_001830.4(CLCN4):c.1453A>G (p.Ile485Val) rs147124557 0.00005
NM_001830.4(CLCN4):c.1551A>C (p.Ala517=) rs757820245 0.00005
NM_001830.4(CLCN4):c.1887C>T (p.Thr629=) rs747772762 0.00005
NM_001830.4(CLCN4):c.1926C>T (p.Ser642=) rs1025957918 0.00005
NM_001830.4(CLCN4):c.244+5G>A rs200370235 0.00005
NM_001830.4(CLCN4):c.408G>A (p.Ser136=) rs139133236 0.00005
NM_001830.4(CLCN4):c.486G>A (p.Leu162=) rs149935413 0.00005
NM_001830.4(CLCN4):c.51C>T (p.Leu17=) rs139365114 0.00005
NM_001830.4(CLCN4):c.705C>G (p.Gly235=) rs777452988 0.00005
NM_001830.4(CLCN4):c.1175A>G (p.Gln392Arg) rs761118786 0.00004
NM_001830.4(CLCN4):c.1253A>G (p.Asn418Ser) rs766106748 0.00004
NM_001830.4(CLCN4):c.1362C>T (p.Val454=) rs370867639 0.00004
NM_001830.4(CLCN4):c.1577-6T>C rs770995887 0.00004
NM_001830.4(CLCN4):c.1819C>T (p.Pro607Ser) rs193252755 0.00004
NM_001830.4(CLCN4):c.2192+10C>T rs370549921 0.00004
NM_001830.4(CLCN4):c.451C>T (p.Leu151=) rs764460799 0.00004
NM_001830.4(CLCN4):c.822C>T (p.Gly274=) rs748967139 0.00004
NM_001830.4(CLCN4):c.844-8C>G rs753237957 0.00004
NM_001830.4(CLCN4):c.871T>C (p.Leu291=) rs373785409 0.00004
NM_001830.4(CLCN4):c.1052G>A (p.Arg351His) rs753359289 0.00003
NM_001830.4(CLCN4):c.1134C>T (p.Ala378=) rs376935412 0.00003
NM_001830.4(CLCN4):c.11C>T (p.Ala4Val) rs201381518 0.00003
NM_001830.4(CLCN4):c.1319C>T (p.Thr440Met) rs376745468 0.00003
NM_001830.4(CLCN4):c.1359C>T (p.Ile453=) rs747448852 0.00003
NM_001830.4(CLCN4):c.1398G>A (p.Ser466=) rs776287214 0.00003
NM_001830.4(CLCN4):c.1401C>T (p.Gly467=) rs376621307 0.00003
NM_001830.4(CLCN4):c.1431G>A (p.Ala477=) rs139272007 0.00003
NM_001830.4(CLCN4):c.1596G>A (p.Thr532=) rs141698066 0.00003
NM_001830.4(CLCN4):c.1716C>T (p.Tyr572=) rs768150344 0.00003
NM_001830.4(CLCN4):c.18G>A (p.Ala6=) rs760994158 0.00003
NM_001830.4(CLCN4):c.1905C>T (p.Pro635=) rs749273690 0.00003
NM_001830.4(CLCN4):c.2004T>C (p.Ile668=) rs149986868 0.00003
NM_001830.4(CLCN4):c.2043C>T (p.Pro681=) rs770044114 0.00003
NM_001830.4(CLCN4):c.2052G>A (p.Pro684=) rs777620754 0.00003
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005 0.00003
NM_001830.4(CLCN4):c.2262C>T (p.Pro754=) rs185639914 0.00003
NM_001830.4(CLCN4):c.357C>T (p.Asn119=) rs764415386 0.00003
NM_001830.4(CLCN4):c.984C>T (p.Tyr328=) rs140518267 0.00003
NM_001830.4(CLCN4):c.1209T>C (p.Asn403=) rs1311324351 0.00002
NM_001830.4(CLCN4):c.1390-10T>A rs773821193 0.00002
NM_001830.4(CLCN4):c.1392C>T (p.Ile464=) rs1473611264 0.00002
NM_001830.4(CLCN4):c.1428C>T (p.Gly476=) rs775225884 0.00002
NM_001830.4(CLCN4):c.1462G>C (p.Glu488Gln) rs781711653 0.00002
NM_001830.4(CLCN4):c.1503G>A (p.Arg501=) rs398123627 0.00002
NM_001830.4(CLCN4):c.1518C>T (p.Pro506=) rs749694905 0.00002
NM_001830.4(CLCN4):c.1536G>A (p.Thr512=) rs1434716352 0.00002
NM_001830.4(CLCN4):c.1576+4C>T rs948007734 0.00002
NM_001830.4(CLCN4):c.1577-9C>G rs767642024 0.00002
NM_001830.4(CLCN4):c.1662G>A (p.Ala554=) rs1417370574 0.00002
NM_001830.4(CLCN4):c.1791C>T (p.Thr597=) rs200013393 0.00002
NM_001830.4(CLCN4):c.1820C>T (p.Pro607Leu) rs1042357480 0.00002
NM_001830.4(CLCN4):c.1821G>A (p.Pro607=) rs776899987 0.00002
NM_001830.4(CLCN4):c.1989G>C (p.Gln663His) rs1402967241 0.00002
NM_001830.4(CLCN4):c.2038C>T (p.Pro680Ser) rs142375213 0.00002
NM_001830.4(CLCN4):c.2109A>G (p.Thr703=) rs374361593 0.00002
NM_001830.4(CLCN4):c.2190C>T (p.Ser730=) rs778033301 0.00002
NM_001830.4(CLCN4):c.234C>T (p.Gly78=) rs140344775 0.00002
NM_001830.4(CLCN4):c.245-6T>C rs748363549 0.00002
NM_001830.4(CLCN4):c.273C>T (p.Ala91=) rs371465743 0.00002
NM_001830.4(CLCN4):c.44A>T (p.Asp15Val) rs1383722929 0.00002
NM_001830.4(CLCN4):c.474A>G (p.Leu158=) rs779080583 0.00002
NM_001830.4(CLCN4):c.573C>T (p.Ser191=) rs759278206 0.00002
NM_001830.4(CLCN4):c.652G>A (p.Gly218Ser) rs767349582 0.00002
NM_001830.4(CLCN4):c.663T>C (p.Leu221=) rs145024580 0.00002
NM_001830.4(CLCN4):c.844-9T>G rs1015541329 0.00002
NM_001830.4(CLCN4):c.930C>A (p.Pro310=) rs1421307675 0.00002
NM_001830.4(CLCN4):c.1031T>G (p.Leu344Trp) rs1569230484 0.00001
NM_001830.4(CLCN4):c.1041C>G (p.Thr347=) rs1280209494 0.00001
NM_001830.4(CLCN4):c.1063G>A (p.Ala355Thr) rs765028935 0.00001
NM_001830.4(CLCN4):c.10G>T (p.Ala4Ser) rs1015209935 0.00001
NM_001830.4(CLCN4):c.1121T>C (p.Ile374Thr) rs372694824 0.00001
NM_001830.4(CLCN4):c.1152C>G (p.Ala384=) rs779176592 0.00001
NM_001830.4(CLCN4):c.1171C>T (p.Arg391Cys) rs371136650 0.00001
NM_001830.4(CLCN4):c.1212C>T (p.Asp404=) rs764834754 0.00001
NM_001830.4(CLCN4):c.121C>T (p.Arg41Trp) rs1487024975 0.00001
NM_001830.4(CLCN4):c.122G>A (p.Arg41Gln) rs766165528 0.00001
NM_001830.4(CLCN4):c.1251C>A (p.Ile417=) rs762603907 0.00001
NM_001830.4(CLCN4):c.1281T>G (p.Asp427Glu) rs755374383 0.00001
NM_001830.4(CLCN4):c.1294C>T (p.Arg432Trp) rs781166298 0.00001
NM_001830.4(CLCN4):c.1295G>A (p.Arg432Gln) rs752631287 0.00001
NM_001830.4(CLCN4):c.12G>A (p.Ala4=) rs746113982 0.00001
NM_001830.4(CLCN4):c.1321G>A (p.Ala441Thr) rs1280248831 0.00001
NM_001830.4(CLCN4):c.144+11T>A rs754800292 0.00001
NM_001830.4(CLCN4):c.1459G>A (p.Val487Met) rs1209518513 0.00001
NM_001830.4(CLCN4):c.1480C>A (p.His494Asn) rs754361706 0.00001
NM_001830.4(CLCN4):c.1528T>C (p.Cys510Arg) rs773686595 0.00001
NM_001830.4(CLCN4):c.1576+5G>A rs183625504 0.00001
NM_001830.4(CLCN4):c.1602A>G (p.Ser534=) rs764551109 0.00001
NM_001830.4(CLCN4):c.16G>A (p.Ala6Thr) rs368173287 0.00001
NM_001830.4(CLCN4):c.1701G>C (p.Gly567=) rs779480610 0.00001
NM_001830.4(CLCN4):c.1731C>T (p.His577=) rs759488008 0.00001
NM_001830.4(CLCN4):c.1740G>A (p.Gly580=) rs200645499 0.00001
NM_001830.4(CLCN4):c.1749C>T (p.Phe583=) rs1219897638 0.00001
NM_001830.4(CLCN4):c.1755C>T (p.Asp585=) rs769615611 0.00001
NM_001830.4(CLCN4):c.177G>A (p.Glu59=) rs1159553381 0.00001
NM_001830.4(CLCN4):c.1829C>T (p.Ser610Leu) rs1358498600 0.00001
NM_001830.4(CLCN4):c.1854T>A (p.Thr618=) rs758852945 0.00001
NM_001830.4(CLCN4):c.1872G>A (p.Thr624=) rs905033726 0.00001
NM_001830.4(CLCN4):c.1896C>T (p.Asn632=) rs777665943 0.00001
NM_001830.4(CLCN4):c.1963A>G (p.Ile655Val) rs1060502511 0.00001
NM_001830.4(CLCN4):c.1998G>C (p.Glu666Asp) rs749145344 0.00001
NM_001830.4(CLCN4):c.2000G>A (p.Gly667Asp) rs953773970 0.00001
NM_001830.4(CLCN4):c.2003T>C (p.Ile668Thr) rs1924836688 0.00001
NM_001830.4(CLCN4):c.2023T>C (p.Tyr675His) rs1301982045 0.00001
NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu) rs1246068842 0.00001
NM_001830.4(CLCN4):c.2065C>T (p.His689Tyr) rs1477197160 0.00001
NM_001830.4(CLCN4):c.2077C>T (p.Leu693=) rs771277540 0.00001
NM_001830.4(CLCN4):c.207G>A (p.Ser69=) rs1394179466 0.00001
NM_001830.4(CLCN4):c.2084G>A (p.Arg695His) rs760081067 0.00001
NM_001830.4(CLCN4):c.2136G>A (p.Thr712=) rs1307880121 0.00001
NM_001830.4(CLCN4):c.2158C>T (p.Leu720=) rs1306206750 0.00001
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met) rs483352716 0.00001
NM_001830.4(CLCN4):c.2192+16T>A rs774739754 0.00001
NM_001830.4(CLCN4):c.223C>T (p.Leu75=) rs919124115 0.00001
NM_001830.4(CLCN4):c.2265A>T (p.Glu755Asp) rs1235348422 0.00001
NM_001830.4(CLCN4):c.231C>T (p.Ile77=) rs777737862 0.00001
NM_001830.4(CLCN4):c.270C>T (p.Leu90=) rs771528043 0.00001
NM_001830.4(CLCN4):c.304G>T (p.Val102Phe) rs760253224 0.00001
NM_001830.4(CLCN4):c.314C>G (p.Ser105Cys) rs1060502510 0.00001
NM_001830.4(CLCN4):c.409G>A (p.Glu137Lys) rs1163637716 0.00001
NM_001830.4(CLCN4):c.419T>C (p.Val140Ala) rs1268937457 0.00001
NM_001830.4(CLCN4):c.433-6G>T rs756234170 0.00001
NM_001830.4(CLCN4):c.448A>C (p.Ile150Leu) rs1281964124 0.00001
NM_001830.4(CLCN4):c.456T>C (p.Asn152=) rs754101660 0.00001
NM_001830.4(CLCN4):c.513G>A (p.Val171=) rs1924141940 0.00001
NM_001830.4(CLCN4):c.547A>T (p.Ile183Leu) rs769632007 0.00001
NM_001830.4(CLCN4):c.687C>T (p.His229=) rs769295270 0.00001
NM_001830.4(CLCN4):c.711C>T (p.Phe237=) rs1156843781 0.00001
NM_001830.4(CLCN4):c.780G>A (p.Ala260=) rs146785042 0.00001
NM_001830.4(CLCN4):c.903G>A (p.Ala301=) rs751563345 0.00001
GRCh37/hg19 Xp22.2(chrX:10204986-10291450)x1
NC_000023.10:g.(?_10153073)_(10180703_?)del
NC_000023.10:g.(?_10181701)_(10201624_?)dup
NM_001830.3:c.-11-?_*4076+?dup
NM_001830.4(CLCN4):c.-12+5G>T rs1602133403
NM_001830.4(CLCN4):c.1005C>T (p.Phe335=)
NM_001830.4(CLCN4):c.1007_1008dup (p.Leu337fs)
NM_001830.4(CLCN4):c.1010T>C (p.Leu337Pro) rs2147179582
NM_001830.4(CLCN4):c.1021T>C (p.Phe341Leu) rs1924445200
NM_001830.4(CLCN4):c.1023C>T (p.Phe341=)
NM_001830.4(CLCN4):c.1024G>A (p.Gly342Arg) rs2147179586
NM_001830.4(CLCN4):c.1024G>C (p.Gly342Arg) rs2147179586
NM_001830.4(CLCN4):c.1039A>G (p.Thr347Ala)
NM_001830.4(CLCN4):c.1040C>A (p.Thr347Asn)
NM_001830.4(CLCN4):c.1042del (p.Leu348fs)
NM_001830.4(CLCN4):c.1051C>G (p.Arg351Gly) rs763535956
NM_001830.4(CLCN4):c.1064C>T (p.Ala355Val)
NM_001830.4(CLCN4):c.1065C>T (p.Ala355=)
NM_001830.4(CLCN4):c.1068G>A (p.Trp356Ter)
NM_001830.4(CLCN4):c.1078C>T (p.Arg360Cys) rs1602157389
NM_001830.4(CLCN4):c.1079G>A (p.Arg360His)
NM_001830.4(CLCN4):c.1088C>T (p.Thr363Ile)
NM_001830.4(CLCN4):c.108A>G (p.Leu36=) rs1602145175
NM_001830.4(CLCN4):c.1096G>A (p.Gly366Arg)
NM_001830.4(CLCN4):c.1106C>T (p.Pro369Leu) rs1924447309
NM_001830.4(CLCN4):c.1130C>T (p.Thr377Ile)
NM_001830.4(CLCN4):c.1132G>A (p.Ala378Thr)
NM_001830.4(CLCN4):c.1135A>G (p.Ile379Val)
NM_001830.4(CLCN4):c.1138A>G (p.Thr380Ala)
NM_001830.4(CLCN4):c.1151C>T (p.Ala384Val)
NM_001830.4(CLCN4):c.1155C>T (p.Tyr385=)
NM_001830.4(CLCN4):c.1174C>T (p.Gln392Ter)
NM_001830.4(CLCN4):c.1181C>G (p.Thr394Ser)
NM_001830.4(CLCN4):c.1185C>A (p.Ser395Arg) rs761467131
NM_001830.4(CLCN4):c.1192A>G (p.Ile398Val)
NM_001830.4(CLCN4):c.1203G>C (p.Leu401=)
NM_001830.4(CLCN4):c.1206C>T (p.Phe402=) rs914589687
NM_001830.4(CLCN4):c.1220C>T (p.Ala407Val) rs2147179707
NM_001830.4(CLCN4):c.1229C>T (p.Ser410Phe) rs1924451588
NM_001830.4(CLCN4):c.1242T>C (p.Cys414=)
NM_001830.4(CLCN4):c.1245C>G (p.Asp415Glu)
NM_001830.4(CLCN4):c.1246T>C (p.Tyr416His) rs1924452172
NM_001830.4(CLCN4):c.1248C>T (p.Tyr416=)
NM_001830.4(CLCN4):c.1271G>A (p.Arg424Gln)
NM_001830.4(CLCN4):c.1273C>T (p.Pro425Ser)
NM_001830.4(CLCN4):c.1296G>T (p.Arg432=) rs1602157535
NM_001830.4(CLCN4):c.1298C>T (p.Pro433Leu) rs896091874
NM_001830.4(CLCN4):c.1299G>T (p.Pro433=)
NM_001830.4(CLCN4):c.1303G>T (p.Gly435Cys)
NM_001830.4(CLCN4):c.1304G>A (p.Gly435Asp)
NM_001830.4(CLCN4):c.1308C>T (p.Val436=)
NM_001830.4(CLCN4):c.1309G>A (p.Gly437Ser)
NM_001830.4(CLCN4):c.1312G>A (p.Val438Ile)
NM_001830.4(CLCN4):c.1315T>C (p.Tyr439His)
NM_001830.4(CLCN4):c.1320G>A (p.Thr440=)
NM_001830.4(CLCN4):c.1324A>G (p.Met442Val)
NM_001830.4(CLCN4):c.1332G>A (p.Gln444=)
NM_001830.4(CLCN4):c.1338C>A (p.Ala446=)
NM_001830.4(CLCN4):c.1369A>G (p.Ile457Val) rs1924456728
NM_001830.4(CLCN4):c.1389+16G>A
NM_001830.4(CLCN4):c.1389+17G>A rs2147179846
NM_001830.4(CLCN4):c.1389+19A>G rs2147179849
NM_001830.4(CLCN4):c.1389+5G>A rs879255590
NM_001830.4(CLCN4):c.1389G>A (p.Lys463=)
NM_001830.4(CLCN4):c.1389G>C (p.Lys463Asn)
NM_001830.4(CLCN4):c.138C>T (p.His46=) rs2147167452
NM_001830.4(CLCN4):c.1390-11_1390-10del rs2147182553
NM_001830.4(CLCN4):c.1390-12T>G
NM_001830.4(CLCN4):c.1390-17C>T
NM_001830.4(CLCN4):c.1390-19_1390-18del
NM_001830.4(CLCN4):c.1390-1G>A rs2147182584
NM_001830.4(CLCN4):c.1390-58C>T rs1989890
NM_001830.4(CLCN4):c.1390-5T>G rs1555976915
NM_001830.4(CLCN4):c.1390-6_1390-4del rs1555976914
NM_001830.4(CLCN4):c.1390-7C>G rs1924583013
NM_001830.4(CLCN4):c.1394C>T (p.Pro465Leu) rs2147182592
NM_001830.4(CLCN4):c.1395G>T (p.Pro465=) rs150240935
NM_001830.4(CLCN4):c.1397C>T (p.Ser466Leu)
NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser) rs1602159841
NM_001830.4(CLCN4):c.1416C>T (p.Ser472=)
NM_001830.4(CLCN4):c.1417A>G (p.Met473Val) rs2147182607
NM_001830.4(CLCN4):c.1418T>C (p.Met473Thr)
NM_001830.4(CLCN4):c.1428C>A (p.Gly476=)
NM_001830.4(CLCN4):c.1430C>T (p.Ala477Val) rs2147182625
NM_001830.4(CLCN4):c.144+14C>T
NM_001830.4(CLCN4):c.144+15G>A
NM_001830.4(CLCN4):c.144+6T>A rs1057523693
NM_001830.4(CLCN4):c.144+7G>A rs2147167459
NM_001830.4(CLCN4):c.1444A>G (p.Met482Val)
NM_001830.4(CLCN4):c.1446G>A (p.Met482Ile)
NM_001830.4(CLCN4):c.145-11C>T
NM_001830.4(CLCN4):c.145-16A>G
NM_001830.4(CLCN4):c.145-16del rs766614915
NM_001830.4(CLCN4):c.145-172G>A rs2073939
NM_001830.4(CLCN4):c.1457G>A (p.Gly486Asp)
NM_001830.4(CLCN4):c.1465C>A (p.Gln489Lys) rs1555976933
NM_001830.4(CLCN4):c.1475A>G (p.Tyr492Cys)
NM_001830.4(CLCN4):c.1481A>T (p.His494Leu) rs2147182681
NM_001830.4(CLCN4):c.1482C>T (p.His494=)
NM_001830.4(CLCN4):c.1490G>A (p.Trp497Ter) rs2147182686
NM_001830.4(CLCN4):c.1492A>G (p.Ile498Val)
NM_001830.4(CLCN4):c.1500C>T (p.Phe500=)
NM_001830.4(CLCN4):c.1506C>G (p.Asn502Lys)
NM_001830.4(CLCN4):c.1510T>C (p.Cys504Arg)
NM_001830.4(CLCN4):c.1517_1527dup (p.Cys510fs)
NM_001830.4(CLCN4):c.1519G>A (p.Gly507Ser)
NM_001830.4(CLCN4):c.1527C>T (p.Asp509=)
NM_001830.4(CLCN4):c.1549G>A (p.Ala517Thr) rs2147182742
NM_001830.4(CLCN4):c.1552A>G (p.Met518Val) rs1924590010
NM_001830.4(CLCN4):c.1553T>C (p.Met518Thr) rs2147182755
NM_001830.4(CLCN4):c.1561G>A (p.Ala521Thr) rs1924590136
NM_001830.4(CLCN4):c.1565C>T (p.Ala522Val) rs2147182765
NM_001830.4(CLCN4):c.1576+185_1576+186dup rs199932119
NM_001830.4(CLCN4):c.1576+186_1576+187insCACACACACACACACACA rs199932119
NM_001830.4(CLCN4):c.1576+186_1576+187insCACACACACACACACACACA rs199932119
NM_001830.4(CLCN4):c.1576+186_1576+187insCACACACACACACACACACACA rs199932119
NM_001830.4(CLCN4):c.1576+186_1576+187insCACACACACACACACACACACACA rs199932119
NM_001830.4(CLCN4):c.1576+186_1576+187insCACACACACACACACACACACACACA rs199932119
NM_001830.4(CLCN4):c.1576+187G>C rs2078275
NM_001830.4(CLCN4):c.1576+18G>A
NM_001830.4(CLCN4):c.1576+20A>T rs1924591947
NM_001830.4(CLCN4):c.1576+5G>C rs183625504
NM_001830.4(CLCN4):c.1576+9A>T rs1444287158
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser) rs1555976973
NM_001830.4(CLCN4):c.1577-14C>T
NM_001830.4(CLCN4):c.1577-17C>G
NM_001830.4(CLCN4):c.1577-204T>G rs144226298
NM_001830.4(CLCN4):c.1577-7_1577-6del rs769104994
NM_001830.4(CLCN4):c.1578T>G (p.Gly526=) rs1468347771
NM_001830.4(CLCN4):c.1580G>C (p.Gly527Ala)
NM_001830.4(CLCN4):c.1597G>A (p.Val533Met)
NM_001830.4(CLCN4):c.1598T>C (p.Val533Ala)
NM_001830.4(CLCN4):c.159C>A (p.Ser53Arg) rs1923844671
NM_001830.4(CLCN4):c.1605GGT[1] (p.Val537del)
NM_001830.4(CLCN4):c.1608G>A (p.Val536=)
NM_001830.4(CLCN4):c.160A>C (p.Lys54Gln)
NM_001830.4(CLCN4):c.1611C>T (p.Val537=)
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg) rs587777161
NM_001830.4(CLCN4):c.1632G>A (p.Gly544=)
NM_001830.4(CLCN4):c.1633G>A (p.Gly545Ser) rs1064795025
NM_001830.4(CLCN4):c.163G>C (p.Glu55Gln)
NM_001830.4(CLCN4):c.1645A>C (p.Ile549Leu) rs2147183705
NM_001830.4(CLCN4):c.1648G>A (p.Val550Met) rs1555977165
NM_001830.4(CLCN4):c.1657A>G (p.Met553Val)
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val) rs879255583
NM_001830.4(CLCN4):c.1665G>A (p.Ala555=) rs1924632828
NM_001830.4(CLCN4):c.1678A>G (p.Lys560Glu) rs1555977174
NM_001830.4(CLCN4):c.1685T>C (p.Val562Ala)
NM_001830.4(CLCN4):c.1695A>G (p.Ala565=) rs776788910
NM_001830.4(CLCN4):c.1704A>G (p.Lys568=)
NM_001830.4(CLCN4):c.1709G>A (p.Gly570Asp)
NM_001830.4(CLCN4):c.1712_1715dup (p.Glu573fs) rs2147183746
NM_001830.4(CLCN4):c.1716C>A (p.Tyr572Ter)
NM_001830.4(CLCN4):c.1717G>A (p.Glu573Lys) rs1837099129
NM_001830.4(CLCN4):c.1724A>G (p.His575Arg)
NM_001830.4(CLCN4):c.1765G>A (p.Glu589Lys)
NM_001830.4(CLCN4):c.1781C>T (p.Thr594Ile)
NM_001830.4(CLCN4):c.1794C>T (p.Asp598=)
NM_001830.4(CLCN4):c.17C>T (p.Ala6Val)
NM_001830.4(CLCN4):c.1802G>A (p.Arg601Gln)
NM_001830.4(CLCN4):c.1808G>A (p.Arg603Gln) rs201895993
NM_001830.4(CLCN4):c.1810C>T (p.Arg604Trp)
NM_001830.4(CLCN4):c.181A>C (p.Ile61Leu) rs1923845523
NM_001830.4(CLCN4):c.1820C>A (p.Pro607Gln) rs1042357480
NM_001830.4(CLCN4):c.1840C>A (p.Gln614Lys)
NM_001830.4(CLCN4):c.1843G>C (p.Asp615His)
NM_001830.4(CLCN4):c.1848C>T (p.Ser616=)
NM_001830.4(CLCN4):c.1854T>C (p.Thr618=)
NM_001830.4(CLCN4):c.1862A>G (p.Asp621Gly) rs1555977214
NM_001830.4(CLCN4):c.1864G>A (p.Val622Met)
NM_001830.4(CLCN4):c.1872G>C (p.Thr624=)
NM_001830.4(CLCN4):c.1882G>A (p.Glu628Lys)
NM_001830.4(CLCN4):c.1887C>G (p.Thr629=) rs747772762
NM_001830.4(CLCN4):c.1888G>A (p.Asp630Asn) rs1468898100
NM_001830.4(CLCN4):c.1906G>C (p.Val636Leu)
NM_001830.4(CLCN4):c.1908G>A (p.Val636=) rs1924640900
NM_001830.4(CLCN4):c.1911G>A (p.Val637=)
NM_001830.4(CLCN4):c.1920A>G (p.Arg640=)
NM_001830.4(CLCN4):c.1926C>G (p.Ser642=)
NM_001830.4(CLCN4):c.1927G>A (p.Glu643Lys)
NM_001830.4(CLCN4):c.1932C>T (p.Arg644=) rs2147183913
NM_001830.4(CLCN4):c.1955G>C (p.Arg652Thr) rs1064794549
NM_001830.4(CLCN4):c.1957G>A (p.Glu653Lys)
NM_001830.4(CLCN4):c.1968C>T (p.Leu656=)
NM_001830.4(CLCN4):c.1969G>A (p.Ala657Thr)
NM_001830.4(CLCN4):c.1969G>T (p.Ala657Ser) rs776720563
NM_001830.4(CLCN4):c.1975+8_1975+9del
NM_001830.4(CLCN4):c.1976-11C>T
NM_001830.4(CLCN4):c.1976-18C>A
NM_001830.4(CLCN4):c.1976-9C>T rs1924834798
NM_001830.4(CLCN4):c.197A>G (p.Asp66Gly)
NM_001830.4(CLCN4):c.1980C>T (p.Asn660=) rs139482850
NM_001830.4(CLCN4):c.1981G>A (p.Ala661Thr)
NM_001830.4(CLCN4):c.199G>T (p.Ala67Ser)
NM_001830.4(CLCN4):c.1A>G (p.Met1Val) rs1555973635
NM_001830.4(CLCN4):c.2003T>G (p.Ile668Ser)
NM_001830.4(CLCN4):c.2020A>T (p.Met674Leu)
NM_001830.4(CLCN4):c.2021T>C (p.Met674Thr) rs1924837336
NM_001830.4(CLCN4):c.2038C>A (p.Pro680Thr) rs142375213
NM_001830.4(CLCN4):c.2058C>T (p.Asn686=) rs2147187632
NM_001830.4(CLCN4):c.2059A>T (p.Ser687Cys)
NM_001830.4(CLCN4):c.206C>T (p.Ser69Leu)
NM_001830.4(CLCN4):c.2070C>G (p.Pro690=)
NM_001830.4(CLCN4):c.2080C>T (p.Arg694Trp)
NM_001830.4(CLCN4):c.2081G>A (p.Arg694Gln)
NM_001830.4(CLCN4):c.2082G>A (p.Arg694=)
NM_001830.4(CLCN4):c.2083C>T (p.Arg695Cys)
NM_001830.4(CLCN4):c.2084_2105del (p.Arg695fs)
NM_001830.4(CLCN4):c.2100C>A (p.Ser700Arg) rs1569233509
NM_001830.4(CLCN4):c.2107A>G (p.Thr703Ala)
NM_001830.4(CLCN4):c.2108C>T (p.Thr703Ile) rs2147187687
NM_001830.4(CLCN4):c.2112G>C (p.Val704=)
NM_001830.4(CLCN4):c.2119C>A (p.His707Asn)
NM_001830.4(CLCN4):c.2127G>A (p.Pro709=) rs376156924
NM_001830.4(CLCN4):c.2127G>C (p.Pro709=) rs376156924
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) rs879255584
NM_001830.4(CLCN4):c.2157A>C (p.Lys719Asn)
NM_001830.4(CLCN4):c.2161G>C (p.Gly721Arg)
NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp) rs1924842665
NM_001830.4(CLCN4):c.2168G>A (p.Arg723Gln) rs1924842771
NM_001830.4(CLCN4):c.2170C>A (p.Gln724Lys)
NM_001830.4(CLCN4):c.2174G>A (p.Cys725Tyr) rs2147187723
NM_001830.4(CLCN4):c.2186G>A (p.Arg729Gln)
NM_001830.4(CLCN4):c.2191G>A (p.Gly731Arg) rs1569233549
NM_001830.4(CLCN4):c.2192+11G>A
NM_001830.4(CLCN4):c.2192+14C>T rs2147187755
NM_001830.4(CLCN4):c.2192+15A>C rs1924844485
NM_001830.4(CLCN4):c.2192+15A>G
NM_001830.4(CLCN4):c.2192+16T>G
NM_001830.4(CLCN4):c.2192+1G>T rs2147187749
NM_001830.4(CLCN4):c.2193-12T>C
NM_001830.4(CLCN4):c.2193-20C>A rs2147193936
NM_001830.4(CLCN4):c.2193-6C>T
NM_001830.4(CLCN4):c.21G>A (p.Met7Ile) rs2147167378
NM_001830.4(CLCN4):c.2231G>A (p.Arg744Lys)
NM_001830.4(CLCN4):c.228C>T (p.Leu76=)
NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser) rs1569226551
NM_001830.4(CLCN4):c.243G>A (p.Ala81=)
NM_001830.4(CLCN4):c.244+13del
NM_001830.4(CLCN4):c.244+15A>G
NM_001830.4(CLCN4):c.244+18C>A
NM_001830.4(CLCN4):c.244+19G>A
NM_001830.4(CLCN4):c.244+4C>T rs192492405
NM_001830.4(CLCN4):c.245-16G>A
NM_001830.4(CLCN4):c.245-16G>C
NM_001830.4(CLCN4):c.245-17C>G
NM_001830.4(CLCN4):c.245-17C>T rs763871197
NM_001830.4(CLCN4):c.245-4C>A
NM_001830.4(CLCN4):c.258G>A (p.Gly86=) rs2147172313
NM_001830.4(CLCN4):c.265G>A (p.Asp89Asn) rs1064794385
NM_001830.4(CLCN4):c.271G>A (p.Ala91Thr)
NM_001830.4(CLCN4):c.274G>A (p.Val92Met) rs1569227811
NM_001830.4(CLCN4):c.280T>C (p.Trp94Arg)
NM_001830.4(CLCN4):c.287C>T (p.Thr96Met)
NM_001830.4(CLCN4):c.288G>T (p.Thr96=)
NM_001830.4(CLCN4):c.299A>C (p.Glu100Ala)
NM_001830.4(CLCN4):c.299A>G (p.Glu100Gly)
NM_001830.4(CLCN4):c.310C>A (p.Leu104Met)
NM_001830.4(CLCN4):c.317C>A (p.Ala106Asp)
NM_001830.4(CLCN4):c.337_338insTTAGCCATGAGC (p.Glu112_Gln113insLeuSerHisGlu)
NM_001830.4(CLCN4):c.339G>A (p.Gln113=)
NM_001830.4(CLCN4):c.340T>C (p.Cys114Arg) rs1924060822
NM_001830.4(CLCN4):c.358G>A (p.Glu120Lys)
NM_001830.4(CLCN4):c.365C>A (p.Thr122Asn) rs1924061396
NM_001830.4(CLCN4):c.37C>A (p.Leu13Met)
NM_001830.4(CLCN4):c.385T>C (p.Cys129Arg)
NM_001830.4(CLCN4):c.406T>A (p.Ser136Thr)
NM_001830.4(CLCN4):c.407C>T (p.Ser136Leu)
NM_001830.4(CLCN4):c.426G>T (p.Gln142His)
NM_001830.4(CLCN4):c.427T>G (p.Ser143Ala)
NM_001830.4(CLCN4):c.42G>T (p.Met14Ile)
NM_001830.4(CLCN4):c.432+18G>C
NM_001830.4(CLCN4):c.432+217AT[7] rs61023983
NM_001830.4(CLCN4):c.433-3T>C rs2147173776
NM_001830.4(CLCN4):c.433-6G>A rs756234170
NM_001830.4(CLCN4):c.433-7T>G
NM_001830.4(CLCN4):c.43G>A (p.Asp15Asn) rs879255591
NM_001830.4(CLCN4):c.441T>G (p.Ser147Arg)
NM_001830.4(CLCN4):c.443C>T (p.Ala148Val) rs2147173781
NM_001830.4(CLCN4):c.463A>G (p.Met155Val)
NM_001830.4(CLCN4):c.463A>T (p.Met155Leu) rs2147173797
NM_001830.4(CLCN4):c.464T>C (p.Met155Thr)
NM_001830.4(CLCN4):c.469A>C (p.Ile157Leu) rs913431577
NM_001830.4(CLCN4):c.469A>G (p.Ile157Val)
NM_001830.4(CLCN4):c.471C>G (p.Ile157Met)
NM_001830.4(CLCN4):c.485T>A (p.Leu162Gln)
NM_001830.4(CLCN4):c.495T>G (p.Phe165Leu)
NM_001830.4(CLCN4):c.497dup (p.Leu166fs) rs2147173819
NM_001830.4(CLCN4):c.498G>T (p.Leu166Phe)
NM_001830.4(CLCN4):c.506C>T (p.Ser169Phe) rs2147173825
NM_001830.4(CLCN4):c.512T>C (p.Val171Ala)
NM_001830.4(CLCN4):c.515G>A (p.Arg172His) rs934129190
NM_001830.4(CLCN4):c.51C>G (p.Leu17=)
NM_001830.4(CLCN4):c.531T>C (p.Tyr177=)
NM_001830.4(CLCN4):c.532G>A (p.Ala178Thr)
NM_001830.4(CLCN4):c.534C>T (p.Ala178=)
NM_001830.4(CLCN4):c.539G>A (p.Gly180Asp)
NM_001830.4(CLCN4):c.555+15A>G
NM_001830.4(CLCN4):c.555+16T>C
NM_001830.4(CLCN4):c.555+16T>G
NM_001830.4(CLCN4):c.555+1G>T
NM_001830.4(CLCN4):c.555+22dup rs755091054
NM_001830.4(CLCN4):c.555+6T>G rs1602151624
NM_001830.4(CLCN4):c.556-9C>G
NM_001830.4(CLCN4):c.563C>T (p.Thr188Ile)
NM_001830.4(CLCN4):c.577T>G (p.Phe193Val)
NM_001830.4(CLCN4):c.584_585delinsCA (p.Ile195Thr) rs1924388314
NM_001830.4(CLCN4):c.586A>C (p.Arg196=) rs930989339
NM_001830.4(CLCN4):c.586del (p.Arg196fs)
NM_001830.4(CLCN4):c.59C>A (p.Pro20Gln) rs762313297
NM_001830.4(CLCN4):c.59C>T (p.Pro20Leu)
NM_001830.4(CLCN4):c.600G>A (p.Gly200=)
NM_001830.4(CLCN4):c.603G>C (p.Lys201Asn)
NM_001830.4(CLCN4):c.609C>G (p.Thr203=)
NM_001830.4(CLCN4):c.60G>A (p.Pro20=)
NM_001830.4(CLCN4):c.611T>C (p.Leu204Pro)
NM_001830.4(CLCN4):c.613C>A (p.Leu205Ile) rs2147178475
NM_001830.4(CLCN4):c.627C>G (p.Val209=) rs750711715
NM_001830.4(CLCN4):c.629C>T (p.Thr210Met) rs2147178483
NM_001830.4(CLCN4):c.64C>G (p.Pro22Ala) rs2147167400
NM_001830.4(CLCN4):c.660C>T (p.Ser220=)
NM_001830.4(CLCN4):c.691G>A (p.Ala231Thr) rs2147178508
NM_001830.4(CLCN4):c.692C>G (p.Ala231Gly)
NM_001830.4(CLCN4):c.695G>T (p.Cys232Phe)
NM_001830.4(CLCN4):c.712T>A (p.Phe238Ile) rs1064795198
NM_001830.4(CLCN4):c.712T>C (p.Phe238Leu) rs1064795198
NM_001830.4(CLCN4):c.718A>G (p.Ser240Gly)
NM_001830.4(CLCN4):c.720C>T (p.Ser240=)
NM_001830.4(CLCN4):c.723T>C (p.Leu241=)
NM_001830.4(CLCN4):c.72G>A (p.Val24=)
NM_001830.4(CLCN4):c.741G>A (p.Lys247=)
NM_001830.4(CLCN4):c.749G>C (p.Gly250Ala)
NM_001830.4(CLCN4):c.755G>A (p.Arg252Lys)
NM_001830.4(CLCN4):c.757C>T (p.Arg253Trp)
NM_001830.4(CLCN4):c.758G>A (p.Arg253Gln)
NM_001830.4(CLCN4):c.758G>T (p.Arg253Leu) rs1924392577
NM_001830.4(CLCN4):c.762+13A>C
NM_001830.4(CLCN4):c.762+14G>A
NM_001830.4(CLCN4):c.763-10T>A
NM_001830.4(CLCN4):c.763-13_763-10del rs1924396449
NM_001830.4(CLCN4):c.763-18G>C
NM_001830.4(CLCN4):c.763G>C (p.Val255Leu)
NM_001830.4(CLCN4):c.779C>T (p.Ala260Val) rs2147178608
NM_001830.4(CLCN4):c.795T>C (p.Ser265=)
NM_001830.4(CLCN4):c.804T>G (p.Phe268Leu) rs1555976161
NM_001830.4(CLCN4):c.806G>A (p.Gly269Asp) rs1131691687
NM_001830.4(CLCN4):c.812C>T (p.Pro271Leu)
NM_001830.4(CLCN4):c.813A>C (p.Pro271=)
NM_001830.4(CLCN4):c.823G>A (p.Val275Met) rs879255585
NM_001830.4(CLCN4):c.823G>C (p.Val275Leu)
NM_001830.4(CLCN4):c.825G>C (p.Val275=) rs1274682889
NM_001830.4(CLCN4):c.832A>C (p.Ser278Arg) rs1060502512
NM_001830.4(CLCN4):c.836T>C (p.Leu279Pro) rs2147178658
NM_001830.4(CLCN4):c.843+11G>A
NM_001830.4(CLCN4):c.843+128_843+129insGTTT rs1306184806
NM_001830.4(CLCN4):c.843+129dup rs368113028
NM_001830.4(CLCN4):c.843+131TTTTGT[5] rs61318398
NM_001830.4(CLCN4):c.843+131TTTTGT[6] rs61318398
NM_001830.4(CLCN4):c.843+134_843+135insTGTTTTT rs1555976201
NM_001830.4(CLCN4):c.843+134dup rs1555976201
NM_001830.4(CLCN4):c.843+14G>A
NM_001830.4(CLCN4):c.843+14G>C
NM_001830.4(CLCN4):c.844G>C (p.Val282Leu) rs1924440766
NM_001830.4(CLCN4):c.847A>G (p.Ser283Gly) rs2147179477
NM_001830.4(CLCN4):c.853T>C (p.Tyr285His) rs2147179483
NM_001830.4(CLCN4):c.859C>G (p.Pro287Ala)
NM_001830.4(CLCN4):c.860C>T (p.Pro287Leu) rs2147179490
NM_001830.4(CLCN4):c.861C>T (p.Pro287=)
NM_001830.4(CLCN4):c.883T>C (p.Phe295Leu)
NM_001830.4(CLCN4):c.888C>T (p.Phe296=)
NM_001830.4(CLCN4):c.890C>T (p.Ala297Val)
NM_001830.4(CLCN4):c.911C>T (p.Thr304Met)
NM_001830.4(CLCN4):c.912G>A (p.Thr304=) rs1361783752
NM_001830.4(CLCN4):c.917G>A (p.Arg306Lys)
NM_001830.4(CLCN4):c.923T>C (p.Ile308Thr)
NM_001830.4(CLCN4):c.924C>T (p.Ile308=)
NM_001830.4(CLCN4):c.926A>G (p.Asn309Ser) rs2147179530
NM_001830.4(CLCN4):c.930C>T (p.Pro310=) rs1421307675
NM_001830.4(CLCN4):c.944G>A (p.Arg315His) rs1374813094
NM_001830.4(CLCN4):c.948C>T (p.Leu316=) rs746958474
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile) rs1064796023
NM_001830.4(CLCN4):c.949G>T (p.Val317Phe) rs1064796023
NM_001830.4(CLCN4):c.958T>A (p.Tyr320Asn)
NM_001830.4(CLCN4):c.975G>T (p.Thr325=)
NM_001830.4(CLCN4):c.987G>T (p.Met329Ile)
NM_001830.4(CLCN4):c.999C>G (p.Phe333Leu)

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