ClinVar Miner

List of variants studied for epilepsy, idiopathic generalized, susceptibility to, 7

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 744
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HGVS dbSNP gnomAD frequency
NM_000726.5(CACNB4):c.*5385C>T rs1568673 0.93666
NM_018100.4(EFHC1):c.*881A>T rs6926242 0.90714
NM_018100.4(EFHC1):c.*121C>A rs7757370 0.87583
NM_018100.4(EFHC1):c.*1180G>A rs4455668 0.87433
NM_018100.4(EFHC1):c.*3144T>A rs3789772 0.70161
NM_001127644.2(GABRA1):c.1059+15G>A rs2279020 0.62825
NM_001127644.2(GABRA1):c.*1506A>C rs998754 0.60031
NM_001127644.2(GABRA1):c.*470A>G rs2290732 0.59993
NM_000726.5(CACNB4):c.*442G>A rs7597215 0.39502
NM_018100.4(EFHC1):c.*3406T>C rs6919266 0.36710
NM_000726.5(CACNB4):c.*3804G>C rs2344734 0.33115
NM_000806.5(GABRA1):c.-441A>G rs11576001 0.29650
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647 0.23538
NM_018100.4(EFHC1):c.*2972C>G rs9367485 0.18894
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_018100.4(EFHC1):c.*1490C>A rs2397092 0.18321
NM_001127644.2(GABRA1):c.-142A>G rs12658835 0.18269
NM_018100.4(EFHC1):c.*2419A>G rs9474228 0.17191
NM_001127644.2(GABRA1):c.-31C>T rs4608967 0.13210
NM_000726.5(CACNB4):c.*1185T>C rs13410490 0.11625
NM_000726.5(CACNB4):c.*1186G>T rs72868010 0.09750
NM_018100.4(EFHC1):c.*871C>G rs78956562 0.09084
NM_018100.4(EFHC1):c.*3192G>A rs3789771 0.08613
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_001127644.2(GABRA1):c.857-18T>C rs78782356 0.05705
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_000726.5(CACNB4):c.*5029T>C rs16830412 0.05230
NM_000726.5(CACNB4):c.*890G>C rs78697588 0.04885
NM_018100.3(EFHC1):c.-195A>G rs2296196 0.04417
NM_018100.4(EFHC1):c.*1024C>T rs372975445 0.03953
NM_000726.5(CACNB4):c.*4771G>A rs80248494 0.03690
NM_001127644.2(GABRA1):c.*937C>A rs41315924 0.03642
NM_018100.4(EFHC1):c.*2164G>A rs59722297 0.02831
NM_000726.5(CACNB4):c.*1656T>C rs62174451 0.02784
NM_000726.5(CACNB4):c.*3157T>A rs10497086 0.02768
NM_001127644.2(GABRA1):c.-53C>A rs75583203 0.01969
NM_000726.5(CACNB4):c.*2885T>C rs116457978 0.01717
NM_000726.5(CACNB4):c.*2163G>A rs80306085 0.01698
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822 0.01603
NM_001127644.2(GABRA1):c.*1929T>C rs2290733 0.01265
NM_001127644.2(GABRA1):c.*1697A>G rs75337618 0.01133
NM_000726.5(CACNB4):c.*2778A>C rs114659375 0.01105
NM_000726.5(CACNB4):c.*1459T>C rs114958916 0.01102
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028 0.01067
NM_004366.6(CLCN2):c.2271+8T>G rs114350071 0.01055
NM_000726.5(CACNB4):c.*865G>A rs75365487 0.00988
NM_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624 0.00969
NM_001127644.2(GABRA1):c.*2035G>A rs73317010 0.00933
NM_000726.5(CACNB4):c.*2837A>G rs138327808 0.00888
NM_000726.5(CACNB4):c.*528A>T rs111999910 0.00814
NM_000726.5(CACNB4):c.*5372T>C rs150406641 0.00778
NM_000726.5(CACNB4):c.*2210A>G rs114341631 0.00772
NM_000726.5(CACNB4):c.*2695G>T rs74894311 0.00768
NM_000726.5(CACNB4):c.*4773A>G rs113408437 0.00714
NM_000726.5(CACNB4):c.*1284T>G rs112989362 0.00674
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_001127644.2(GABRA1):c.-16+8C>A rs138671319 0.00544
NM_000726.5(CACNB4):c.-25G>T rs143675846 0.00516
NM_018100.3(EFHC1):c.-162C>T rs41273738 0.00472
NM_001127644.2(GABRA1):c.*1381T>C rs187522588 0.00463
NM_000726.5(CACNB4):c.*2391T>G rs143821304 0.00454
NM_001127644.2(GABRA1):c.*2098C>T rs147837301 0.00428
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00428
NM_001127644.2(GABRA1):c.*1821T>G rs10059108 0.00427
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_018100.4(EFHC1):c.*896C>T rs112311115 0.00399
NM_000726.5(CACNB4):c.*2729G>A rs144329745 0.00357
NM_000806.5(GABRA1):c.-449G>C rs190043578 0.00355
NM_004366.6(CLCN2):c.2415+9A>G rs192449317 0.00351
NM_000726.5(CACNB4):c.*624A>T rs755272601 0.00332
NM_000726.5(CACNB4):c.*6140G>T rs74944346 0.00321
NM_000726.5(CACNB4):c.599-15G>A rs41270209 0.00314
NM_000726.5(CACNB4):c.*5855A>C rs118093432 0.00312
NM_000726.5(CACNB4):c.*1942T>C rs139629003 0.00300
NM_000726.5(CACNB4):c.*5022A>G rs548177540 0.00298
NM_018100.4(EFHC1):c.25T>C (p.Leu9=) rs149315015 0.00264
NM_018100.4(EFHC1):c.887G>A (p.Arg296His) rs115205076 0.00261
NM_000726.5(CACNB4):c.*1909C>T rs113319414 0.00256
NM_001127644.2(GABRA1):c.*2523A>C rs567624810 0.00224
NM_000806.5(GABRA1):c.-446G>C rs28364635 0.00203
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_018100.4(EFHC1):c.*1876T>G rs148070071 0.00194
NM_018100.4(EFHC1):c.*233T>A rs538486876 0.00193
NM_000726.5(CACNB4):c.*5622C>T rs187012852 0.00191
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753 0.00156
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00148
NM_001127644.2(GABRA1):c.*988A>G rs182930988 0.00140
NM_000726.5(CACNB4):c.*1093T>C rs142139235 0.00122
NM_000726.5(CACNB4):c.*2188T>G rs548234328 0.00122
NM_001127644.2(GABRA1):c.-162G>A rs547029877 0.00121
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_018100.4(EFHC1):c.*99T>A rs151292895 0.00110
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_000726.5(CACNB4):c.*1814G>A rs181447432 0.00103
NM_000726.5(CACNB4):c.*737C>T rs558590558 0.00096
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) rs113886269 0.00087
NM_000726.5(CACNB4):c.*4969G>A rs537140595 0.00076
NM_000726.5(CACNB4):c.*1110C>A rs147608603 0.00074
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_001127644.2(GABRA1):c.*1752G>T rs41303356 0.00066
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00066
NM_001127644.2(GABRA1):c.255+12C>T rs144727170 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_000806.5(GABRA1):c.-405T>C rs181962869 0.00059
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638 0.00059
NM_018100.4(EFHC1):c.*527C>T rs540732861 0.00050
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln) rs137852682 0.00047
NM_001127644.2(GABRA1):c.*630T>C rs578077816 0.00046
NM_000726.5(CACNB4):c.*4976T>C rs191424720 0.00042
NM_000726.5(CACNB4):c.*5562A>G rs192309143 0.00042
NM_001127644.2(GABRA1):c.*401G>A rs541504060 0.00041
NM_000726.5(CACNB4):c.*592T>C rs779110885 0.00039
NM_001127644.2(GABRA1):c.*433G>C rs140183311 0.00038
NM_000726.5(CACNB4):c.*4131A>G rs373381936 0.00036
NM_018100.4(EFHC1):c.*1576C>A rs547537212 0.00029
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862 0.00028
NM_004366.6(CLCN2):c.1633G>A (p.Ala545Thr) rs137978189 0.00027
NM_000726.5(CACNB4):c.*1952C>A rs764877003 0.00026
NM_001127644.2(GABRA1):c.*1781T>C rs952357734 0.00022
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746 0.00022
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys) rs140268343 0.00021
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe) rs542973906 0.00021
NM_001127644.2(GABRA1):c.886T>C (p.Leu296=) rs149677108 0.00021
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) rs377227885 0.00021
NM_001127644.2(GABRA1):c.74+19A>G rs370522819 0.00020
NM_000726.5(CACNB4):c.*4570T>C rs549017506 0.00019
NM_000726.5(CACNB4):c.*4T>C rs556761275 0.00019
NM_000726.5(CACNB4):c.*795T>G rs766545084 0.00019
NM_001127644.2(GABRA1):c.*1601T>G rs886060369 0.00019
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser) rs142107827 0.00019
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_001127644.2(GABRA1):c.*398A>C rs374845401 0.00015
NM_001127644.2(GABRA1):c.1086T>C (p.Ile362=) rs187648029 0.00015
NM_001127644.2(GABRA1):c.231C>T (p.Phe77=) rs566224462 0.00015
NM_001127644.2(GABRA1):c.704-17T>G rs115043829 0.00015
NM_000726.5(CACNB4):c.*1009C>T rs367723727 0.00014
NM_001127644.2(GABRA1):c.-4C>T rs375475234 0.00014
NM_004366.6(CLCN2):c.1548C>A (p.Ser516=) rs370266713 0.00014
NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys) rs762394421 0.00013
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396 0.00013
NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro) rs143751880 0.00013
NM_000726.5(CACNB4):c.*3475A>T rs567549082 0.00012
NM_001127644.2(GABRA1):c.*1324T>C rs866632459 0.00012
NM_001127644.2(GABRA1):c.*1426A>G rs952390349 0.00012
NM_001127644.2(GABRA1):c.1079C>A (p.Pro360His) rs80337021 0.00012
NM_004366.6(CLCN2):c.1600G>C (p.Val534Leu) rs200337116 0.00012
NM_004366.6(CLCN2):c.221-8G>A rs769713180 0.00012
NM_018100.4(EFHC1):c.*2211C>T rs753392817 0.00012
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu) rs369926953 0.00012
NM_000726.5(CACNB4):c.*1520del rs374745796 0.00011
NM_000726.5(CACNB4):c.*1910_*1911del rs372743707 0.00011
NM_000726.5(CACNB4):c.*4145T>C rs781255950 0.00011
NM_001127644.2(GABRA1):c.*1984T>C rs1015675139 0.00011
NM_001127644.2(GABRA1):c.-252T>C rs766490931 0.00011
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) rs374616425 0.00011
NM_004366.6(CLCN2):c.726C>T (p.Ala242=) rs768569603 0.00011
NM_001127644.2(GABRA1):c.-220T>C rs186477194 0.00010
NM_018100.4(EFHC1):c.*2430C>T rs749445189 0.00010
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu) rs369468811 0.00010
NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln) rs140476054 0.00010
NM_000726.5(CACNB4):c.*4919G>A rs763593694 0.00009
NM_000726.5(CACNB4):c.*5487T>C rs111700454 0.00009
NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg) rs773391545 0.00009
NM_004366.6(CLCN2):c.898+1G>A rs141074059 0.00009
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252 0.00009
NM_001127644.2(GABRA1):c.*2009G>C rs139565984 0.00008
NM_001127644.2(GABRA1):c.*2279G>A rs575186628 0.00008
NM_001127644.2(GABRA1):c.*456C>T rs945683052 0.00008
NM_004366.6(CLCN2):c.1141C>G (p.Pro381Ala) rs141605519 0.00008
NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys) rs574948354 0.00008
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721 0.00008
NM_001127644.2(GABRA1):c.1070T>C (p.Val357Ala) rs749707253 0.00007
NM_001127644.2(GABRA1):c.846A>G (p.Arg282=) rs139467768 0.00007
NM_000726.5(CACNB4):c.*1785G>A rs886054961 0.00006
NM_000726.5(CACNB4):c.*1931T>C rs886054958 0.00006
NM_000726.5(CACNB4):c.*4569A>G rs778742650 0.00006
NM_001127644.2(GABRA1):c.*213C>T rs886060362 0.00006
NM_001127644.2(GABRA1):c.704-10T>C rs188133840 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_018100.4(EFHC1):c.*681G>A rs560182875 0.00006
NM_018100.4(EFHC1):c.*957C>T rs761411516 0.00006
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_001127644.2(GABRA1):c.*1512G>A rs886060368 0.00005
NM_001127644.2(GABRA1):c.*413G>A rs886060365 0.00005
NM_001127644.2(GABRA1):c.*771C>T rs886060366 0.00005
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=) rs551045474 0.00005
NM_004366.6(CLCN2):c.1517C>T (p.Ala506Val) rs769768770 0.00005
NM_000726.5(CACNB4):c.*4081G>A rs148903851 0.00004
NM_000726.5(CACNB4):c.*5433A>G rs563567053 0.00004
NM_000726.5(CACNB4):c.*6183A>G rs185830609 0.00004
NM_000806.5(GABRA1):c.-439A>G rs886060357 0.00004
NM_001127644.2(GABRA1):c.*438A>C rs1041886081 0.00004
NM_001127644.2(GABRA1):c.1218A>G (p.Pro406=) rs371392768 0.00004
NM_001127644.2(GABRA1):c.1229A>G (p.Lys410Arg) rs376031361 0.00004
NM_001127644.2(GABRA1):c.1284G>A (p.Pro428=) rs74873701 0.00004
NM_001127644.2(GABRA1):c.216C>T (p.Ile72=) rs200716712 0.00004
NM_001127644.2(GABRA1):c.476+16C>T rs780581747 0.00004
NM_001127644.2(GABRA1):c.59C>T (p.Thr20Ile) rs756553428 0.00004
NM_001127644.2(GABRA1):c.840A>G (p.Pro280=) rs150497014 0.00004
NM_001127644.2(GABRA1):c.873C>T (p.Leu291=) rs777911034 0.00004
NM_001127644.2(GABRA1):c.966C>T (p.Ala322=) rs201133616 0.00004
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.2642G>A (p.Arg881His) rs199616806 0.00004
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe) rs750259384 0.00004
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645 0.00004
NM_000726.5(CACNB4):c.*1937T>G rs758893086 0.00003
NM_000726.5(CACNB4):c.*5122C>T rs187940787 0.00003
NM_000726.5(CACNB4):c.1278T>C (p.Tyr426=) rs376015337 0.00003
NM_001127644.2(GABRA1):c.*1685C>T rs1442411830 0.00003
NM_001127644.2(GABRA1):c.*325T>A rs76047934 0.00003
NM_001127644.2(GABRA1):c.*993C>T rs1013417216 0.00003
NM_001127644.2(GABRA1):c.384C>T (p.Phe128=) rs1219475284 0.00003
NM_001127644.2(GABRA1):c.390T>C (p.Asn130=) rs778019249 0.00003
NM_001127644.2(GABRA1):c.756C>T (p.Tyr252=) rs775895535 0.00003
NM_001127644.2(GABRA1):c.834T>C (p.Ser278=) rs749956729 0.00003
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu) rs200218956 0.00003
NM_001127644.2(GABRA1):c.93A>C (p.Leu31Phe) rs747927213 0.00003
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471 0.00003
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys) rs201197637 0.00003
NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys) rs201543041 0.00003
NM_000726.5(CACNB4):c.*3387C>G rs886054955 0.00002
NM_000806.5(GABRA1):c.-455G>A rs531705924 0.00002
NM_001127644.2(GABRA1):c.*1061T>C rs374002978 0.00002
NM_001127644.2(GABRA1):c.*1425T>C rs919551233 0.00002
NM_001127644.2(GABRA1):c.*1609A>C rs1231156247 0.00002
NM_001127644.2(GABRA1):c.1130C>T (p.Pro377Leu) rs751571034 0.00002
NM_001127644.2(GABRA1):c.1146C>T (p.Gly382=) rs79593368 0.00002
NM_001127644.2(GABRA1):c.1151C>T (p.Pro384Leu) rs755336024 0.00002
NM_001127644.2(GABRA1):c.1234A>T (p.Thr412Ser) rs1229633395 0.00002
NM_001127644.2(GABRA1):c.1261C>A (p.Arg421=) rs756295089 0.00002
NM_001127644.2(GABRA1):c.198C>T (p.Thr66=) rs770208588 0.00002
NM_001127644.2(GABRA1):c.237C>T (p.Pro79=) rs536603724 0.00002
NM_001127644.2(GABRA1):c.297T>C (p.Asp99=) rs750394365 0.00002
NM_001127644.2(GABRA1):c.33T>C (p.Leu11=) rs766418049 0.00002
NM_001127644.2(GABRA1):c.477-14A>G rs757378039 0.00002
NM_001127644.2(GABRA1):c.633T>C (p.Asp211=) rs587780947 0.00002
NM_001127644.2(GABRA1):c.699T>C (p.Ser233=) rs756876744 0.00002
NM_001127644.2(GABRA1):c.75C>T (p.Ser25=) rs75423500 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_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys) rs201261630 0.00002
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) rs773385237 0.00002
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala) rs750899949 0.00002
NM_000726.5(CACNB4):c.*1811C>A rs886054960 0.00001
NM_000726.5(CACNB4):c.*2924T>C rs886054956 0.00001
NM_000726.5(CACNB4):c.*3688G>A rs886054954 0.00001
NM_000726.5(CACNB4):c.1199G>A (p.Arg400His) rs376491652 0.00001
NM_000726.5(CACNB4):c.147+14751T>C rs915286423 0.00001
NM_000726.5(CACNB4):c.1470A>T (p.Glu490Asp) rs768385119 0.00001
NM_000726.5(CACNB4):c.156G>A (p.Ala52=) rs764332480 0.00001
NM_000726.5(CACNB4):c.177G>A (p.Pro59=) rs552093496 0.00001
NM_000726.5(CACNB4):c.521+9C>T rs747291810 0.00001
NM_000726.5(CACNB4):c.64-4C>T rs886054970 0.00001
NM_001127644.2(GABRA1):c.*1359T>C rs1164629079 0.00001
NM_001127644.2(GABRA1):c.*1686G>A rs1561590547 0.00001
NM_001127644.2(GABRA1):c.*1971T>C rs886060372 0.00001
NM_001127644.2(GABRA1):c.*2334C>T rs886060373 0.00001
NM_001127644.2(GABRA1):c.*838G>A rs940074128 0.00001
NM_001127644.2(GABRA1):c.1026T>C (p.Tyr342=) rs750925935 0.00001
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met) rs1755340949 0.00001
NM_001127644.2(GABRA1):c.1104C>T (p.Tyr368=) rs771832995 0.00001
NM_001127644.2(GABRA1):c.1108C>A (p.Pro370Thr) rs1424508480 0.00001
NM_001127644.2(GABRA1):c.1127C>A (p.Thr376Asn) rs761617651 0.00001
NM_001127644.2(GABRA1):c.1147G>A (p.Asp383Asn) rs375377575 0.00001
NM_001127644.2(GABRA1):c.1156T>G (p.Leu386Val) rs771316858 0.00001
NM_001127644.2(GABRA1):c.1179A>C (p.Ala393=) rs779528536 0.00001
NM_001127644.2(GABRA1):c.1206C>T (p.Pro402=) rs541335259 0.00001
NM_001127644.2(GABRA1):c.1228A>G (p.Lys410Glu) rs1424659316 0.00001
NM_001127644.2(GABRA1):c.1297A>G (p.Ile433Val) rs1057518405 0.00001
NM_001127644.2(GABRA1):c.1337A>G (p.Glu446Gly) rs1755418006 0.00001
NM_001127644.2(GABRA1):c.1357A>G (p.Thr453Ala) rs747892371 0.00001
NM_001127644.2(GABRA1):c.1358C>T (p.Thr453Ile) rs1755420544 0.00001
NM_001127644.2(GABRA1):c.188A>C (p.Glu63Ala) rs1429109541 0.00001
NM_001127644.2(GABRA1):c.219C>T (p.Phe73=) rs1436904885 0.00001
NM_001127644.2(GABRA1):c.256-9A>T rs1325544924 0.00001
NM_001127644.2(GABRA1):c.32T>C (p.Leu11Pro) rs762939760 0.00001
NM_001127644.2(GABRA1):c.372G>A (p.Pro124=) rs1378731581 0.00001
NM_001127644.2(GABRA1):c.378A>G (p.Thr126=) rs756299135 0.00001
NM_001127644.2(GABRA1):c.385C>T (p.His129Tyr) rs146134200 0.00001
NM_001127644.2(GABRA1):c.408C>T (p.Ala136=) rs771269673 0.00001
NM_001127644.2(GABRA1):c.422T>G (p.Met141Arg) rs1235304350 0.00001
NM_001127644.2(GABRA1):c.459C>T (p.Thr153=) rs761693717 0.00001
NM_001127644.2(GABRA1):c.476+13G>A rs758229064 0.00001
NM_001127644.2(GABRA1):c.476+17T>C rs752753999 0.00001
NM_001127644.2(GABRA1):c.476+6G>A rs764873956 0.00001
NM_001127644.2(GABRA1):c.477-5T>C rs779231183 0.00001
NM_001127644.2(GABRA1):c.478C>T (p.Leu160=) rs1269683161 0.00001
NM_001127644.2(GABRA1):c.531C>T (p.Ala177=) rs747452052 0.00001
NM_001127644.2(GABRA1):c.602A>G (p.Glu201Gly) rs765292293 0.00001
NM_001127644.2(GABRA1):c.611G>A (p.Arg204His) rs777320447 0.00001
NM_001127644.2(GABRA1):c.672A>G (p.Thr224=) rs372742479 0.00001
NM_001127644.2(GABRA1):c.677A>G (p.Asp226Gly) rs748783999 0.00001
NM_001127644.2(GABRA1):c.691C>G (p.Gln231Glu) rs1173993011 0.00001
NM_001127644.2(GABRA1):c.704-18G>A rs758058259 0.00001
NM_001127644.2(GABRA1):c.74+10C>G rs557887445 0.00001
NM_001127644.2(GABRA1):c.78T>C (p.Tyr26=) rs779666888 0.00001
NM_001127644.2(GABRA1):c.831G>A (p.Glu277=) rs764666718 0.00001
NM_001127644.2(GABRA1):c.856+11A>G rs564871157 0.00001
NM_001127644.2(GABRA1):c.857-3C>T rs1323709924 0.00001
NM_001127644.2(GABRA1):c.857-5T>C rs543710675 0.00001
NM_001127644.2(GABRA1):c.87G>A (p.Pro29=) rs374399356 0.00001
NM_001127644.2(GABRA1):c.8A>G (p.Lys3Arg) rs111452646 0.00001
NM_001127644.2(GABRA1):c.94C>A (p.Gln32Lys) rs769743354 0.00001
NM_001127644.2(GABRA1):c.972G>T (p.Val324=) rs145617915 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_018100.4(EFHC1):c.*2023T>C rs886061638 0.00001
NM_018100.4(EFHC1):c.*226A>G rs562067977 0.00001
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=) rs201946033 0.00001
NM_018100.4(EFHC1):c.144C>T (p.Gly48=) rs372240827 0.00001
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588 0.00001
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys) rs770182350 0.00001
NM_018100.4(EFHC1):c.346A>G (p.Arg116Gly) rs886061627 0.00001
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn) rs148615781 0.00001
NC_000005.10:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGC rs587777363
NC_000005.9:g.(?_160721068)_(161528343_?)del
NC_000005.9:g.(?_161112996)_(161324428_?)dup
NC_000005.9:g.(?_161128494)_(161580374_?)del
NC_000005.9:g.(?_161292707)_(161495132_?)del
NC_000005.9:g.(?_161309544)_(161309727_?)del
NC_000006.12:g.(?_52423789)_(52492432_?)del
NC_000006.12:g.(?_52479017)_(52492432_?)del
NM_000726.4(CACNB4):c.-57G>T rs886054971
NM_000726.4(CACNB4):c.-70G>A rs183873853
NM_000726.5(CACNB4):c.*1501del rs886054963
NM_000726.5(CACNB4):c.*1501dup rs886054963
NM_000726.5(CACNB4):c.*151del rs79470866
NM_000726.5(CACNB4):c.*151dup rs79470866
NM_000726.5(CACNB4):c.*1635T>C rs886054962
NM_000726.5(CACNB4):c.*1826A>G rs886054959
NM_000726.5(CACNB4):c.*2188del rs75297236
NM_000726.5(CACNB4):c.*2542G>A rs886054957
NM_000726.5(CACNB4):c.*3668T>C rs543493236
NM_000726.5(CACNB4):c.*442_*443del rs886054966
NM_000726.5(CACNB4):c.*443A>G rs538829019
NM_000726.5(CACNB4):c.*454del rs879114509
NM_000726.5(CACNB4):c.*454dup rs879114509
NM_000726.5(CACNB4):c.*4845T>C rs886054953
NM_000726.5(CACNB4):c.*5418T>C rs886054952
NM_000726.5(CACNB4):c.*5863T>G rs886054951
NM_000726.5(CACNB4):c.*5977G>T rs886054950
NM_000726.5(CACNB4):c.*5995dup rs886054949
NM_000726.5(CACNB4):c.*624del rs11291336
NM_000726.5(CACNB4):c.*787del rs560958457
NM_000726.5(CACNB4):c.187G>C (p.Asp63His) rs886054969
NM_000726.5(CACNB4):c.337G>T (p.Val113Phe) rs886054968
NM_000726.5(CACNB4):c.610del (p.Gln204fs) rs1057518688
NM_000726.5(CACNB4):c.642T>C (p.Asp214=) rs886054967
NM_000726.5(CACNB4):c.669G>A (p.Val223=) rs2151408188
NM_000726.5(CACNB4):c.959C>T (p.Ala320Val) rs2151358415
NM_000746.6(CHRNA7):c.241-1G>A rs1566846736
NM_000806.5(GABRA1):c.-248+5C>T rs932077882
NM_000806.5(GABRA1):c.-248+8C>A rs886060358
NM_000806.5(GABRA1):c.-399C>T rs1581171032
NM_000806.5(GABRA1):c.-438del rs112361424
NM_000806.5(GABRA1):c.-442dup rs201310567
NM_000806.5(GABRA1):c.-447G>C rs184629690
NM_000806.5(GABRA1):c.-447G>T rs184629690
NM_000806.5(GABRA1):c.-448G>A rs11576000
NM_000806.5(GABRA1):c.-448G>C rs11576000
NM_001127644.2(GABRA1):c.*1319A>G rs886060367
NM_001127644.2(GABRA1):c.*1443A>G rs575959204
NM_001127644.2(GABRA1):c.*1526A>G rs540638714
NM_001127644.2(GABRA1):c.*1611G>A rs903295997
NM_001127644.2(GABRA1):c.*1659A>G rs886060370
NM_001127644.2(GABRA1):c.*1749T>C rs1755506626
NM_001127644.2(GABRA1):c.*1837C>G rs886060371
NM_001127644.2(GABRA1):c.*1938A>G rs1755514760
NM_001127644.2(GABRA1):c.*242C>G rs1755432560
NM_001127644.2(GABRA1):c.*302A>G rs886060364
NM_001127644.2(GABRA1):c.*304del rs547262225
NM_001127644.2(GABRA1):c.*580G>A rs534982201
NM_001127644.2(GABRA1):c.*580G>T rs534982201
NM_001127644.2(GABRA1):c.*826G>A rs957754896
NM_001127644.2(GABRA1):c.-10C>G rs376699435
NM_001127644.2(GABRA1):c.-117GACTCG[3] rs527890421
NM_001127644.2(GABRA1):c.-15-5T>G rs1757413235
NM_001127644.2(GABRA1):c.-195A>G rs886060359
NM_001127644.2(GABRA1):c.1001T>G (p.Val334Gly)
NM_001127644.2(GABRA1):c.1004A>T (p.Asn335Ile) rs1581220295
NM_001127644.2(GABRA1):c.1008T>C (p.Tyr336=)
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser) rs1561587910
NM_001127644.2(GABRA1):c.1020A>G (p.Arg340=)
NM_001127644.2(GABRA1):c.1029A>G (p.Ala343=) rs1304537393
NM_001127644.2(GABRA1):c.1033G>A (p.Asp345Asn) rs2113465051
NM_001127644.2(GABRA1):c.103C>A (p.Leu35Ile)
NM_001127644.2(GABRA1):c.1043G>C (p.Ser348Thr)
NM_001127644.2(GABRA1):c.1059+14T>C
NM_001127644.2(GABRA1):c.1059+2T>C rs1755341108
NM_001127644.2(GABRA1):c.1059+7G>A
NM_001127644.2(GABRA1):c.1059+8C>A rs758699164
NM_001127644.2(GABRA1):c.1060-10del rs1581221506
NM_001127644.2(GABRA1):c.1060-14C>T rs1755401207
NM_001127644.2(GABRA1):c.1065G>A (p.Lys355=) rs1554087785
NM_001127644.2(GABRA1):c.1068A>G (p.Lys356=)
NM_001127644.2(GABRA1):c.1069G>A (p.Val357Ile)
NM_001127644.2(GABRA1):c.1070T>A (p.Val357Glu) rs749707253
NM_001127644.2(GABRA1):c.1070_1074del (p.Val357fs)
NM_001127644.2(GABRA1):c.1078C>A (p.Pro360Thr)
NM_001127644.2(GABRA1):c.1078C>G (p.Pro360Ala)
NM_001127644.2(GABRA1):c.1078C>T (p.Pro360Ser)
NM_001127644.2(GABRA1):c.1079C>T (p.Pro360Leu) rs80337021
NM_001127644.2(GABRA1):c.1081C>T (p.Leu361Phe)
NM_001127644.2(GABRA1):c.1099A>T (p.Thr367Ser) rs2113469507
NM_001127644.2(GABRA1):c.1105G>A (p.Ala369Thr) rs775344663
NM_001127644.2(GABRA1):c.1108C>T (p.Pro370Ser) rs1424508480
NM_001127644.2(GABRA1):c.1138G>C (p.Ala380Pro) rs2113469735
NM_001127644.2(GABRA1):c.1145G>A (p.Gly382Asp)
NM_001127644.2(GABRA1):c.1146C>A (p.Gly382=)
NM_001127644.2(GABRA1):c.1151C>G (p.Pro384Arg)
NM_001127644.2(GABRA1):c.1152G>A (p.Pro384=) rs777957860
NM_001127644.2(GABRA1):c.1158A>T (p.Leu386Phe)
NM_001127644.2(GABRA1):c.1159G>T (p.Ala387Ser) rs1561588765
NM_001127644.2(GABRA1):c.1160C>T (p.Ala387Val) rs1755408701
NM_001127644.2(GABRA1):c.1162A>C (p.Thr388Pro) rs2113469919
NM_001127644.2(GABRA1):c.1184T>C (p.Ile395Thr)
NM_001127644.2(GABRA1):c.1192A>G (p.Lys398Glu) rs1755409878
NM_001127644.2(GABRA1):c.1199T>C (p.Val400Ala)
NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn) rs796052487
NM_001127644.2(GABRA1):c.1202A>G (p.Lys401Arg) rs745362654
NM_001127644.2(GABRA1):c.1206C>A (p.Pro402=)
NM_001127644.2(GABRA1):c.1207G>A (p.Glu403Lys) rs775157869
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127644.2(GABRA1):c.1211C>G (p.Thr404Arg) rs768389200
NM_001127644.2(GABRA1):c.1212A>G (p.Thr404=)
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_001127644.2(GABRA1):c.1239T>C (p.Phe413=) rs2113470244
NM_001127644.2(GABRA1):c.1244G>C (p.Ser415Thr) rs752803296
NM_001127644.2(GABRA1):c.124T>C (p.Phe42Leu) rs2113307162
NM_001127644.2(GABRA1):c.1251C>T (p.Ser417=)
NM_001127644.2(GABRA1):c.1253A>G (p.Lys418Arg) rs1490107518
NM_001127644.2(GABRA1):c.1257T>C (p.Ile419=) rs1755413332
NM_001127644.2(GABRA1):c.1259A>G (p.Asp420Gly)
NM_001127644.2(GABRA1):c.1260C>T (p.Asp420=)
NM_001127644.2(GABRA1):c.1261C>T (p.Arg421Ter)
NM_001127644.2(GABRA1):c.1263A>T (p.Arg421=) rs1581221881
NM_001127644.2(GABRA1):c.1264C>T (p.Leu422=) rs754135872
NM_001127644.2(GABRA1):c.1274T>C (p.Ile425Thr) rs1755414752
NM_001127644.2(GABRA1):c.1288C>T (p.Leu430=)
NM_001127644.2(GABRA1):c.1290A>G (p.Leu430=) rs886060361
NM_001127644.2(GABRA1):c.1321_1324delinsC (p.Thr441_Tyr442delinsHis) rs1755416915
NM_001127644.2(GABRA1):c.1322C>T (p.Thr441Met) rs145217327
NM_001127644.2(GABRA1):c.1329A>G (p.Leu443=) rs2113470613
NM_001127644.2(GABRA1):c.1332C>G (p.Asn444Lys) rs1554087843
NM_001127644.2(GABRA1):c.1347A>G (p.Leu449=)
NM_001127644.2(GABRA1):c.134T>C (p.Ile45Thr)
NM_001127644.2(GABRA1):c.1350dup (p.Ala451fs)
NM_001127644.2(GABRA1):c.1351G>A (p.Ala451Thr) rs1312439667
NM_001127644.2(GABRA1):c.1354_1356dup (p.Pro452dup) rs1755419468
NM_001127644.2(GABRA1):c.1357A>C (p.Thr453Pro) rs747892371
NM_001127644.2(GABRA1):c.1358_1359delinsTC (p.Thr453Ile)
NM_001127644.2(GABRA1):c.1360C>T (p.Pro454Ser)
NM_001127644.2(GABRA1):c.1365T>C (p.His455=)
NM_001127644.2(GABRA1):c.1366C>T (p.Gln456Ter) rs1755420995
NM_001127644.2(GABRA1):c.138G>T (p.Leu46Phe)
NM_001127644.2(GABRA1):c.13C>T (p.Pro5Ser) rs866369940
NM_001127644.2(GABRA1):c.147C>A (p.Leu49=) rs2113307246
NM_001127644.2(GABRA1):c.148C>T (p.Leu50=) rs2113307265
NM_001127644.2(GABRA1):c.150A>G (p.Leu50=) rs1006797468
NM_001127644.2(GABRA1):c.153T>C (p.Asp51=)
NM_001127644.2(GABRA1):c.167G>A (p.Arg56His)
NM_001127644.2(GABRA1):c.176C>T (p.Pro59Leu) rs1064796448
NM_001127644.2(GABRA1):c.187+16G>T
NM_001127644.2(GABRA1):c.187+5G>T rs368360804
NM_001127644.2(GABRA1):c.188-12C>G
NM_001127644.2(GABRA1):c.188-14T>C
NM_001127644.2(GABRA1):c.188-15T>A
NM_001127644.2(GABRA1):c.188-19C>T
NM_001127644.2(GABRA1):c.188-9C>A
NM_001127644.2(GABRA1):c.190C>T (p.Arg64Cys) rs1753807484
NM_001127644.2(GABRA1):c.191G>A (p.Arg64His) rs1753807587
NM_001127644.2(GABRA1):c.197C>A (p.Thr66Asn) rs2113354062
NM_001127644.2(GABRA1):c.200A>T (p.Glu67Val)
NM_001127644.2(GABRA1):c.201A>G (p.Glu67=) rs766903604
NM_001127644.2(GABRA1):c.20T>G (p.Leu7Arg)
NM_001127644.2(GABRA1):c.214A>C (p.Ile72Leu)
NM_001127644.2(GABRA1):c.216C>A (p.Ile72=)
NM_001127644.2(GABRA1):c.216C>G (p.Ile72Met)
NM_001127644.2(GABRA1):c.217T>A (p.Phe73Ile) rs1753808798
NM_001127644.2(GABRA1):c.226A>G (p.Ser76Gly) rs1402107983
NM_001127644.2(GABRA1):c.227G>A (p.Ser76Asn)
NM_001127644.2(GABRA1):c.232G>A (p.Gly78Arg) rs1561571575
NM_001127644.2(GABRA1):c.234A>C (p.Gly78=) rs1753809692
NM_001127644.2(GABRA1):c.235C>A (p.Pro79Thr) rs2113354212
NM_001127644.2(GABRA1):c.243A>C (p.Ser81=) rs1362339390
NM_001127644.2(GABRA1):c.250G>C (p.Asp84His)
NM_001127644.2(GABRA1):c.253A>G (p.Met85Val)
NM_001127644.2(GABRA1):c.255+10C>A
NM_001127644.2(GABRA1):c.255+8G>A
NM_001127644.2(GABRA1):c.255+9A>T
NM_001127644.2(GABRA1):c.256-2A>G rs1064795805
NM_001127644.2(GABRA1):c.256-4C>T
NM_001127644.2(GABRA1):c.258A>G (p.Glu86=)
NM_001127644.2(GABRA1):c.261T>C (p.Tyr87=) rs1057523723
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn) rs796052488
NM_001127644.2(GABRA1):c.268G>T (p.Asp90Tyr) rs796052488
NM_001127644.2(GABRA1):c.269A>G (p.Asp90Gly)
NM_001127644.2(GABRA1):c.275T>C (p.Phe92Ser) rs2113380903
NM_001127644.2(GABRA1):c.281G>A (p.Arg94His)
NM_001127644.2(GABRA1):c.287G>T (p.Ser96Ile)
NM_001127644.2(GABRA1):c.288C>T (p.Ser96=)
NM_001127644.2(GABRA1):c.28T>C (p.Cys10Arg) rs1217531305
NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly) rs1754197638
NM_001127644.2(GABRA1):c.303G>A (p.Arg101=) rs758360317
NM_001127644.2(GABRA1):c.312T>G (p.Phe104Leu) rs2113381036
NM_001127644.2(GABRA1):c.320C>A (p.Pro107His)
NM_001127644.2(GABRA1):c.320C>T (p.Pro107Leu)
NM_001127644.2(GABRA1):c.321T>A (p.Pro107=) rs932397983
NM_001127644.2(GABRA1):c.322A>G (p.Met108Val) rs2113381084
NM_001127644.2(GABRA1):c.326C>T (p.Thr109Ile) rs2113381099
NM_001127644.2(GABRA1):c.332T>C (p.Leu111Pro)
NM_001127644.2(GABRA1):c.333C>A (p.Leu111=)
NM_001127644.2(GABRA1):c.334C>T (p.Arg112Trp) rs1754199170
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.335G>T (p.Arg112Leu)
NM_001127644.2(GABRA1):c.346C>T (p.Leu116=) rs1048661957
NM_001127644.2(GABRA1):c.348A>G (p.Leu116=) rs1233872919
NM_001127644.2(GABRA1):c.35G>T (p.Trp12Leu)
NM_001127644.2(GABRA1):c.365G>A (p.Trp122Ter)
NM_001127644.2(GABRA1):c.371C>T (p.Pro124Leu)
NM_001127644.2(GABRA1):c.374A>G (p.Asp125Gly) rs2113381253
NM_001127644.2(GABRA1):c.379T>G (p.Phe127Val)
NM_001127644.2(GABRA1):c.37G>A (p.Ala13Thr)
NM_001127644.2(GABRA1):c.396G>A (p.Lys132=)
NM_001127644.2(GABRA1):c.39C>G (p.Ala13=) rs1581175017
NM_001127644.2(GABRA1):c.413A>G (p.Asn138Ser)
NM_001127644.2(GABRA1):c.419C>A (p.Thr140Asn)
NM_001127644.2(GABRA1):c.429C>A (p.Asn143Lys)
NM_001127644.2(GABRA1):c.429C>T (p.Asn143=)
NM_001127644.2(GABRA1):c.42G>T (p.Trp14Cys)
NM_001127644.2(GABRA1):c.430A>G (p.Lys144Glu) rs2113381483
NM_001127644.2(GABRA1):c.435C>G (p.Leu145=)
NM_001127644.2(GABRA1):c.439C>A (p.Arg147=)
NM_001127644.2(GABRA1):c.439C>G (p.Arg147Gly)
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp) rs139163545
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797
NM_001127644.2(GABRA1):c.453T>C (p.Asp151=) rs1308271547
NM_001127644.2(GABRA1):c.463C>T (p.Leu155=)
NM_001127644.2(GABRA1):c.474G>A (p.Met158Ile) rs1754206052
NM_001127644.2(GABRA1):c.476+14C>T rs1180737693
NM_001127644.2(GABRA1):c.476+19C>T rs1057522828
NM_001127644.2(GABRA1):c.476+2T>A rs2113381723
NM_001127644.2(GABRA1):c.477-14_477-13del
NM_001127644.2(GABRA1):c.477-7C>T
NM_001127644.2(GABRA1):c.481A>G (p.Thr161Ala)
NM_001127644.2(GABRA1):c.485T>G (p.Val162Gly) rs1554085822
NM_001127644.2(GABRA1):c.48C>T (p.Leu16=) rs1554083720
NM_001127644.2(GABRA1):c.498T>G (p.Cys166Trp) rs1437350481
NM_001127644.2(GABRA1):c.513G>A (p.Glu171=)
NM_001127644.2(GABRA1):c.522T>A (p.Pro174=)
NM_001127644.2(GABRA1):c.534T>G (p.His178Gln) rs1754314083
NM_001127644.2(GABRA1):c.537T>C (p.Ala179=) rs945438671
NM_001127644.2(GABRA1):c.554G>T (p.Gly185Val) rs2113389243
NM_001127644.2(GABRA1):c.559+15A>G
NM_001127644.2(GABRA1):c.559+16T>C
NM_001127644.2(GABRA1):c.559+18G>A
NM_001127644.2(GABRA1):c.559+19A>G rs1554085838
NM_001127644.2(GABRA1):c.559+20C>T rs2113389380
NM_001127644.2(GABRA1):c.559T>G (p.Tyr187Asp) rs2113389254
NM_001127644.2(GABRA1):c.560-12G>C
NM_001127644.2(GABRA1):c.560-13T>C rs2113414291
NM_001127644.2(GABRA1):c.560-95_598del
NM_001127644.2(GABRA1):c.560-9T>C rs1581207011
NM_001127644.2(GABRA1):c.560-9del rs1230461981
NM_001127644.2(GABRA1):c.560A>G (p.Tyr187Cys)
NM_001127644.2(GABRA1):c.560A>T (p.Tyr187Phe) rs1388847957
NM_001127644.2(GABRA1):c.563C>A (p.Ala188Asp)
NM_001127644.2(GABRA1):c.565T>C (p.Tyr189His)
NM_001127644.2(GABRA1):c.576A>G (p.Ala192=) rs1319609279
NM_001127644.2(GABRA1):c.576A>T (p.Ala192=)
NM_001127644.2(GABRA1):c.596C>G (p.Thr199Ser)
NM_001127644.2(GABRA1):c.5G>A (p.Arg2Lys) rs2113293570
NM_001127644.2(GABRA1):c.610C>T (p.Arg204Cys)
NM_001127644.2(GABRA1):c.611G>T (p.Arg204Leu)
NM_001127644.2(GABRA1):c.612C>G (p.Arg204=)
NM_001127644.2(GABRA1):c.619G>T (p.Val207Phe) rs2113414552
NM_001127644.2(GABRA1):c.624A>G (p.Val208=)
NM_001127644.2(GABRA1):c.627A>G (p.Ala209=)
NM_001127644.2(GABRA1):c.634G>C (p.Gly212Arg) rs1754664241
NM_001127644.2(GABRA1):c.637T>A (p.Ser213Thr) rs1581207094
NM_001127644.2(GABRA1):c.638C>T (p.Ser213Leu) rs1754664529
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.649C>A (p.Gln217Lys) rs1554086437
NM_001127644.2(GABRA1):c.651G>A (p.Gln217=)
NM_001127644.2(GABRA1):c.653A>C (p.Tyr218Ser) rs1754665353
NM_001127644.2(GABRA1):c.655G>A (p.Asp219Asn) rs587777364
NM_001127644.2(GABRA1):c.67G>A (p.Gly23Arg)
NM_001127644.2(GABRA1):c.702A>G (p.Thr234=) rs1392262946
NM_001127644.2(GABRA1):c.703+18A>G
NM_001127644.2(GABRA1):c.703+5G>A rs1754668246
NM_001127644.2(GABRA1):c.703+8C>A rs376693195
NM_001127644.2(GABRA1):c.703+8C>T rs376693195
NM_001127644.2(GABRA1):c.703+9G>A
NM_001127644.2(GABRA1):c.708A>G (p.Glu236=)
NM_001127644.2(GABRA1):c.723C>A (p.Thr241=) rs2113446356
NM_001127644.2(GABRA1):c.725C>T (p.Thr242Ile) rs759786297
NM_001127644.2(GABRA1):c.729T>C (p.His243=) rs772218052
NM_001127644.2(GABRA1):c.732C>T (p.Phe244=) rs1581215256
NM_001127644.2(GABRA1):c.74+10C>T rs557887445
NM_001127644.2(GABRA1):c.74+13T>A
NM_001127644.2(GABRA1):c.74+16T>A
NM_001127644.2(GABRA1):c.74+16del
NM_001127644.2(GABRA1):c.74+3_74+4delinsAT rs1757418856
NM_001127644.2(GABRA1):c.74+5G>A
NM_001127644.2(GABRA1):c.74+6G>A rs754431874
NM_001127644.2(GABRA1):c.74+9A>C
NM_001127644.2(GABRA1):c.74+9A>T rs41275339
NM_001127644.2(GABRA1):c.75-11T>C
NM_001127644.2(GABRA1):c.75-13T>C
NM_001127644.2(GABRA1):c.75-14_75-13del
NM_001127644.2(GABRA1):c.75-17T>G
NM_001127644.2(GABRA1):c.75-18C>G
NM_001127644.2(GABRA1):c.75-4dup rs563768487
NM_001127644.2(GABRA1):c.75-7T>C
NM_001127644.2(GABRA1):c.75-8T>G
NM_001127644.2(GABRA1):c.751G>A (p.Gly251Ser) rs587777307
NM_001127644.2(GABRA1):c.753C>T (p.Gly251=) rs2113446431
NM_001127644.2(GABRA1):c.755A>G (p.Tyr252Cys) rs2113446442
NM_001127644.2(GABRA1):c.768A>G (p.Gln256=)
NM_001127644.2(GABRA1):c.770C>T (p.Thr257Ile) rs1755061866
NM_001127644.2(GABRA1):c.775C>T (p.Leu259=)
NM_001127644.2(GABRA1):c.785_786dup (p.Met263Ter)
NM_001127644.2(GABRA1):c.787A>T (p.Met263Leu) rs1561584736
NM_001127644.2(GABRA1):c.788T>C (p.Met263Thr) rs796052491
NM_001127644.2(GABRA1):c.790A>G (p.Thr264Ala)
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe) rs796052492
NM_001127644.2(GABRA1):c.79G>A (p.Gly27Arg)
NM_001127644.2(GABRA1):c.809T>G (p.Val270Gly) rs1755063375
NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu) rs866861998
NM_001127644.2(GABRA1):c.813del (p.Phe272fs) rs2113446665
NM_001127644.2(GABRA1):c.817T>C (p.Trp273Arg)
NM_001127644.2(GABRA1):c.824A>G (p.Asn275Ser) rs1755063824
NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys) rs1755063970
NM_001127644.2(GABRA1):c.828A>C (p.Arg276Ser)
NM_001127644.2(GABRA1):c.830A>G (p.Glu277Gly)
NM_001127644.2(GABRA1):c.831G>T (p.Glu277Asp) rs764666718
NM_001127644.2(GABRA1):c.833C>A (p.Ser278Tyr)
NM_001127644.2(GABRA1):c.833C>T (p.Ser278Phe)
NM_001127644.2(GABRA1):c.834T>G (p.Ser278=) rs749956729
NM_001127644.2(GABRA1):c.839C>A (p.Pro280Gln)
NM_001127644.2(GABRA1):c.84G>T (p.Gln28His)
NM_001127644.2(GABRA1):c.850G>C (p.Val284Leu) rs1755065243
NM_001127644.2(GABRA1):c.856+8C>T rs1554087151
NM_001127644.2(GABRA1):c.857-10T>A rs2113464132
NM_001127644.2(GABRA1):c.857-18T>A rs78782356
NM_001127644.2(GABRA1):c.857-19_857-18delinsCC
NM_001127644.2(GABRA1):c.857-20del
NM_001127644.2(GABRA1):c.857-2A>G rs1313965409
NM_001127644.2(GABRA1):c.857-8C>T rs752572964
NM_001127644.2(GABRA1):c.857-9del rs3214859
NM_001127644.2(GABRA1):c.857-9dup rs3214859
NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile) rs796052493
NM_001127644.2(GABRA1):c.85C>A (p.Pro29Thr)
NM_001127644.2(GABRA1):c.863C>T (p.Thr288Ile) rs1755330256
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala) rs189199636
NM_001127644.2(GABRA1):c.867T>A (p.Thr289=)
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001127644.2(GABRA1):c.875C>T (p.Thr292Ile)
NM_001127644.2(GABRA1):c.881C>G (p.Thr294Arg) rs796052495
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) rs796052496
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg) rs1581220163
NM_001127644.2(GABRA1):c.906C>T (p.Asn302=)
NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu) rs1755333582
NM_001127644.2(GABRA1):c.920T>C (p.Val307Ala) rs1581220195
NM_001127644.2(GABRA1):c.923C>A (p.Ala308Asp) rs1554087620
NM_001127644.2(GABRA1):c.927T>C (p.Tyr309=)
NM_001127644.2(GABRA1):c.932C>T (p.Thr311Ile) rs1581220210
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_001127644.2(GABRA1):c.950T>C (p.Ile317Thr) rs1755335825
NM_001127644.2(GABRA1):c.955G>A (p.Val319Met) rs2113464702
NM_001127644.2(GABRA1):c.962A>G (p.Tyr321Cys) rs1755336507
NM_001127644.2(GABRA1):c.965C>A (p.Ala322Asp) rs121434579
NM_001127644.2(GABRA1):c.975C>A (p.Phe325Leu) rs2113464798
NM_001127644.2(GABRA1):c.975del (p.Ser326fs) rs1581220270
NM_001127644.2(GABRA1):c.978A>G (p.Ser326=)
NM_001127644.2(GABRA1):c.978_982del (p.Ala327fs)
NM_001127644.2(GABRA1):c.97G>A (p.Asp33Asn)
NM_001127644.2(GABRA1):c.983T>C (p.Leu328Pro)
NM_001127644.2(GABRA1):c.998C>T (p.Thr333Ile) rs2113464870
NM_001127644.2(GABRA1):c.999A>T (p.Thr333=)
NM_004366.6(CLCN2):c.1550C>T (p.Thr517Met) rs1458831101
NM_004366.6(CLCN2):c.1690T>C (p.Tyr564His) rs1728346222
NM_004366.6(CLCN2):c.1721+5G>A
NM_004366.6(CLCN2):c.1856-11G>C rs200595019
NM_004366.6(CLCN2):c.221-14_221-4del rs515726132
NM_004366.6(CLCN2):c.2415+4_2415+5dup rs146494980
NM_004366.6(CLCN2):c.335T>C (p.Ile112Thr)
NM_004366.6(CLCN2):c.415A>C (p.Thr139Pro) rs770392085
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs) rs756385625
NM_004366.6(CLCN2):c.964C>T (p.Pro322Ser) rs2108571082
NM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs)
NM_006922.4(SCN3A):c.1485T>G (p.Ser495Arg) rs2105834282
NM_018100.3(EFHC1):c.-148_-147GC[1] rs796720054
NM_018100.4(EFHC1):c.*1025AT[12] rs59794069
NM_018100.4(EFHC1):c.*1025AT[13] rs59794069
NM_018100.4(EFHC1):c.*1025AT[14] rs59794069
NM_018100.4(EFHC1):c.*1025AT[19] rs59794069
NM_018100.4(EFHC1):c.*1025AT[20] rs59794069
NM_018100.4(EFHC1):c.*1025AT[21] rs59794069
NM_018100.4(EFHC1):c.*1025AT[9] rs59794069
NM_018100.4(EFHC1):c.*1045delinsATATATATATATA rs886061633
NM_018100.4(EFHC1):c.*1045delinsATATATATATATATATATATATATATATATATA rs886061633
NM_018100.4(EFHC1):c.*1064AC[4] rs886061634
NM_018100.4(EFHC1):c.*1325dup rs35994917
NM_018100.4(EFHC1):c.*140C>T rs78906153
NM_018100.4(EFHC1):c.*1481TC[1] rs886061636
NM_018100.4(EFHC1):c.*1749_*1750insAC rs58779695
NM_018100.4(EFHC1):c.*1813dup rs201262358
NM_018100.4(EFHC1):c.*2913G>C rs886061639
NM_018100.4(EFHC1):c.*392A>C rs9463792
NM_018100.4(EFHC1):c.*549TA[3] rs886061631
NM_018100.4(EFHC1):c.*66C>G rs574373324
NM_018100.4(EFHC1):c.1197T>C (p.Ala399=) rs886061630
NM_018100.4(EFHC1):c.1286C>T (p.Pro429Leu) rs1765607722
NM_018100.4(EFHC1):c.1365T>C (p.Pro455=) rs1581846971
NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys) rs928396576
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln) rs767704811
NM_018100.4(EFHC1):c.666_671del (p.Lys222_Val224delinsAsn) rs886061628
NM_018100.4(EFHC1):c.723+18_723+19insG rs1581829739
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys) rs886061629
NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg) rs1216562585
NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg)

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