ClinVar Miner

List of variants in gene CLCN2 studied for epilepsy

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822 0.01603
NM_004366.6(CLCN2):c.2271+8T>G rs114350071 0.01055
NM_004366.6(CLCN2):c.2415+9A>G rs192449317 0.00351
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753 0.00156
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys) rs148545588 0.00119
NM_004366.6(CLCN2):c.616-19C>T rs189868847 0.00112
NM_004366.6(CLCN2):c.1086-17G>A rs200509841 0.00111
NM_004366.6(CLCN2):c.1128G>A (p.Thr376=) rs149773402 0.00109
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369 0.00108
NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn) rs141242566 0.00056
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln) rs137852682 0.00047
NM_004366.6(CLCN2):c.1856-3C>T rs371193424 0.00044
NM_004366.6(CLCN2):c.1969A>C (p.Thr657Pro) rs149827415 0.00041
NM_004366.6(CLCN2):c.1633G>A (p.Ala545Thr) rs137978189 0.00027
NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu) rs140463309 0.00025
NM_004366.6(CLCN2):c.879A>G (p.Ala293=) rs138937943 0.00018
NM_004366.6(CLCN2):c.1491G>A (p.Gly497=) rs138627624 0.00017
NM_004366.6(CLCN2):c.936C>G (p.Leu312=) rs41266267 0.00016
NM_004366.6(CLCN2):c.1548C>A (p.Ser516=) rs370266713 0.00014
NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro) rs143751880 0.00013
NM_004366.6(CLCN2):c.1600G>C (p.Val534Leu) rs200337116 0.00012
NM_004366.6(CLCN2):c.221-8G>A rs769713180 0.00012
NM_004366.6(CLCN2):c.726C>T (p.Ala242=) rs768569603 0.00011
NM_004366.6(CLCN2):c.898+1G>A rs141074059 0.00009
NM_004366.6(CLCN2):c.1141C>G (p.Pro381Ala) rs141605519 0.00008
NM_004366.6(CLCN2):c.1934G>A (p.Arg645Gln) rs375401465 0.00007
NM_004366.6(CLCN2):c.1067A>G (p.Asn356Ser) rs764793623 0.00006
NM_004366.6(CLCN2):c.1171-3T>C rs777453345 0.00006
NM_004366.6(CLCN2):c.1214C>T (p.Thr405Met) rs376497260 0.00006
NM_004366.6(CLCN2):c.2156C>T (p.Ser719Leu) rs138573287 0.00006
NM_004366.6(CLCN2):c.2657G>A (p.Arg886Gln) rs759074708 0.00006
NM_004366.6(CLCN2):c.302T>C (p.Met101Thr) rs546781274 0.00006
NM_004366.6(CLCN2):c.1517C>T (p.Ala506Val) rs769768770 0.00005
NM_004366.6(CLCN2):c.1793G>A (p.Arg598Gln) rs780348130 0.00004
NM_004366.6(CLCN2):c.1958G>C (p.Arg653Thr) rs568335048 0.00004
NM_004366.6(CLCN2):c.2143+8C>T rs752854427 0.00004
NM_004366.6(CLCN2):c.2174G>A (p.Arg725Gln) rs762292619 0.00004
NM_004366.6(CLCN2):c.2642G>A (p.Arg881His) rs199616806 0.00004
NM_004366.6(CLCN2):c.1015G>C (p.Val339Leu) rs532632165 0.00002
NM_004366.6(CLCN2):c.154C>T (p.Pro52Ser) rs184790106 0.00002
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) rs201330912 0.00002
NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val) rs781034991 0.00002
NM_004366.6(CLCN2):c.2499G>A (p.Lys833=) rs368782176 0.00002
NM_004366.6(CLCN2):c.1143del (p.Gly382fs) rs863225252 0.00001
NM_004366.6(CLCN2):c.1715G>A (p.Arg572His) rs1303886490 0.00001
NM_004366.6(CLCN2):c.221-4C>A rs748018356 0.00001
NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val) rs755134167 0.00001
NM_004366.6(CLCN2):c.481+18G>A rs759220889 0.00001
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln) rs1293789661 0.00001
NM_004366.6(CLCN2):c.672C>T (p.Ser224=) rs755629585 0.00001
NM_004366.6(CLCN2):c.775G>A (p.Val259Ile) rs757549500 0.00001
NM_004366.6(CLCN2):c.925C>T (p.Arg309Ter) rs863225250 0.00001
NM_004366.6(CLCN2):c.932G>A (p.Arg311Gln) rs1382714741 0.00001
NM_004366.6(CLCN2):c.1019A>G (p.Tyr340Cys)
NM_004366.6(CLCN2):c.1042G>A (p.Val348Met)
NM_004366.6(CLCN2):c.1069del (p.Arg357fs)
NM_004366.6(CLCN2):c.1070G>A (p.Arg357His)
NM_004366.6(CLCN2):c.1072T>C (p.Phe358Leu)
NM_004366.6(CLCN2):c.1086-3_1086-2dup
NM_004366.6(CLCN2):c.1086-9C>T
NM_004366.6(CLCN2):c.1159A>T (p.Met387Leu)
NM_004366.6(CLCN2):c.1183G>A (p.Glu395Lys)
NM_004366.6(CLCN2):c.1192_1200del (p.Val398_Leu400del)
NM_004366.6(CLCN2):c.119G>A (p.Arg40Gln)
NM_004366.6(CLCN2):c.1229G>T (p.Gly410Val)
NM_004366.6(CLCN2):c.1282C>T (p.Arg428Cys)
NM_004366.6(CLCN2):c.1460C>T (p.Thr487Met)
NM_004366.6(CLCN2):c.1478G>A (p.Arg493Gln)
NM_004366.6(CLCN2):c.1483G>T (p.Val495Leu)
NM_004366.6(CLCN2):c.1510G>T (p.Ala504Ser)
NM_004366.6(CLCN2):c.1543G>C (p.Val515Leu)
NM_004366.6(CLCN2):c.1547C>T (p.Ser516Phe)
NM_004366.6(CLCN2):c.1550C>T (p.Thr517Met) rs1458831101
NM_004366.6(CLCN2):c.1567G>A (p.Glu523Lys)
NM_004366.6(CLCN2):c.1581G>C (p.Gln527His)
NM_004366.6(CLCN2):c.1627G>A (p.Ala543Thr)
NM_004366.6(CLCN2):c.1690T>C (p.Tyr564His) rs1728346222
NM_004366.6(CLCN2):c.1705G>A (p.Gly569Ser)
NM_004366.6(CLCN2):c.1712GCC[1] (p.Arg572del)
NM_004366.6(CLCN2):c.1714C>T (p.Arg572Cys)
NM_004366.6(CLCN2):c.1721+4C>T
NM_004366.6(CLCN2):c.1721+5G>A
NM_004366.6(CLCN2):c.1735C>T (p.Arg579Cys)
NM_004366.6(CLCN2):c.173C>T (p.Ala58Val)
NM_004366.6(CLCN2):c.1742_1753del (p.Glu581_Met584del)
NM_004366.6(CLCN2):c.1757G>A (p.Arg586Gln)
NM_004366.6(CLCN2):c.1757G>T (p.Arg586Leu)
NM_004366.6(CLCN2):c.1795G>T (p.Asp599Tyr)
NM_004366.6(CLCN2):c.1828C>T (p.Arg610Ter)
NM_004366.6(CLCN2):c.1856-11G>C rs200595019
NM_004366.6(CLCN2):c.1884G>A (p.Glu628=)
NM_004366.6(CLCN2):c.1885C>T (p.Arg629Cys)
NM_004366.6(CLCN2):c.1896G>A (p.Val632=)
NM_004366.6(CLCN2):c.1932C>T (p.Arg644=)
NM_004366.6(CLCN2):c.194del (p.Gly65fs)
NM_004366.6(CLCN2):c.1954C>T (p.Arg652Cys)
NM_004366.6(CLCN2):c.196C>T (p.Arg66Trp)
NM_004366.6(CLCN2):c.1973C>T (p.Ser658Phe)
NM_004366.6(CLCN2):c.197G>A (p.Arg66Gln)
NM_004366.6(CLCN2):c.2003C>T (p.Thr668Ile)
NM_004366.6(CLCN2):c.2029-12del
NM_004366.6(CLCN2):c.2057C>T (p.Ala686Val)
NM_004366.6(CLCN2):c.2068G>A (p.Glu690Lys)
NM_004366.6(CLCN2):c.206G>T (p.Cys69Phe)
NM_004366.6(CLCN2):c.2090C>T (p.Pro697Leu)
NM_004366.6(CLCN2):c.212G>A (p.Arg71Gln)
NM_004366.6(CLCN2):c.2149G>A (p.Ala717Thr)
NM_004366.6(CLCN2):c.2161G>C (p.Gly721Arg)
NM_004366.6(CLCN2):c.2178C>G (p.Ser726Arg)
NM_004366.6(CLCN2):c.217C>T (p.Arg73Cys)
NM_004366.6(CLCN2):c.2186G>A (p.Cys729Tyr)
NM_004366.6(CLCN2):c.2197C>T (p.Pro733Ser)
NM_004366.6(CLCN2):c.220+15G>A
NM_004366.6(CLCN2):c.2200C>T (p.Pro734Ser)
NM_004366.6(CLCN2):c.221-14_221-4del rs515726132
NM_004366.6(CLCN2):c.221-2A>G
NM_004366.6(CLCN2):c.2213C>G (p.Ser738Trp)
NM_004366.6(CLCN2):c.2216A>G (p.Glu739Gly)
NM_004366.6(CLCN2):c.2217+5G>C
NM_004366.6(CLCN2):c.221T>C (p.Val74Ala)
NM_004366.6(CLCN2):c.2270C>T (p.Ala757Val)
NM_004366.6(CLCN2):c.2278G>T (p.Ala760Ser)
NM_004366.6(CLCN2):c.2310+19C>T
NM_004366.6(CLCN2):c.232C>A (p.Arg78Ser)
NM_004366.6(CLCN2):c.2345C>T (p.Pro782Leu)
NM_004366.6(CLCN2):c.2364C>G (p.Cys788Trp)
NM_004366.6(CLCN2):c.2398C>T (p.Arg800Trp)
NM_004366.6(CLCN2):c.2399G>A (p.Arg800Gln)
NM_004366.6(CLCN2):c.2415+4_2415+5dup rs146494980
NM_004366.6(CLCN2):c.2415+6G>A
NM_004366.6(CLCN2):c.2425A>G (p.Ile809Val)
NM_004366.6(CLCN2):c.2502+1G>C
NM_004366.6(CLCN2):c.2507G>A (p.Arg836Gln)
NM_004366.6(CLCN2):c.254C>T (p.Ser85Phe)
NM_004366.6(CLCN2):c.2558C>A (p.Pro853His)
NM_004366.6(CLCN2):c.261T>A (p.Val87=)
NM_004366.6(CLCN2):c.273G>C (p.Trp91Cys)
NM_004366.6(CLCN2):c.335T>C (p.Ile112Thr)
NM_004366.6(CLCN2):c.371G>A (p.Arg124Gln)
NM_004366.6(CLCN2):c.415A>C (p.Thr139Pro) rs770392085
NM_004366.6(CLCN2):c.448G>A (p.Gly150Arg)
NM_004366.6(CLCN2):c.459G>C (p.Gln153His)
NM_004366.6(CLCN2):c.505A>C (p.Thr169Pro)
NM_004366.6(CLCN2):c.596G>C (p.Gly199Ala) rs863225248
NM_004366.6(CLCN2):c.602C>T (p.Pro201Leu)
NM_004366.6(CLCN2):c.615+8C>T
NM_004366.6(CLCN2):c.629A>G (p.His210Arg)
NM_004366.6(CLCN2):c.631A>G (p.Ile211Val)
NM_004366.6(CLCN2):c.633C>G (p.Ile211Met)
NM_004366.6(CLCN2):c.64-1G>A
NM_004366.6(CLCN2):c.662A>C (p.Lys221Thr)
NM_004366.6(CLCN2):c.666C>A (p.Phe222Leu)
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs) rs756385625
NM_004366.6(CLCN2):c.689A>G (p.Tyr230Cys)
NM_004366.6(CLCN2):c.727G>A (p.Ala243Thr)
NM_004366.6(CLCN2):c.73C>T (p.Arg25Trp)
NM_004366.6(CLCN2):c.766A>G (p.Ile256Val)
NM_004366.6(CLCN2):c.773-9C>G
NM_004366.6(CLCN2):c.790G>A (p.Glu264Lys)
NM_004366.6(CLCN2):c.812C>T (p.Ala271Val)
NM_004366.6(CLCN2):c.815T>C (p.Val272Ala)
NM_004366.6(CLCN2):c.819G>T (p.Arg273=)
NM_004366.6(CLCN2):c.830G>A (p.Arg277Gln)
NM_004366.6(CLCN2):c.925C>G (p.Arg309Gly)
NM_004366.6(CLCN2):c.937G>A (p.Asp313Asn)
NM_004366.6(CLCN2):c.95C>A (p.Ala32Asp)
NM_004366.6(CLCN2):c.964C>T (p.Pro322Ser) rs2108571082
NM_004366.6(CLCN2):c.978C>T (p.Val326=)
NM_004366.6(CLCN2):c.980T>C (p.Ile327Thr)
NM_004366.6(CLCN2):c.992G>C (p.Ser331Thr)
NM_004366.6(CLCN2):c.997T>C (p.Phe333Leu)

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