List of variants in gene SLC6A1 reported as uncertain significance for childhood-onset epilepsy syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 221

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HGVS	dbSNP	gnomAD frequency
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)	rs191293931	0.00026
NM_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln)	rs771439149	0.00006
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)	rs752396911	0.00006
NM_003042.4(SLC6A1):c.1302C>G (p.Ile434Met)	rs200670508	0.00003
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg)	rs1264567694	0.00003
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=)	rs372085480	0.00003
NM_003042.4(SLC6A1):c.769C>T (p.Arg257Cys)	rs752750805	0.00002
NM_003042.4(SLC6A1):c.1191+3del	rs1486885212	0.00001
NM_003042.4(SLC6A1):c.1255C>T (p.Arg419Cys)	rs910130675	0.00001
NM_003042.4(SLC6A1):c.1426G>A (p.Gly476Ser)	rs1328806521	0.00001
NM_003042.4(SLC6A1):c.1526C>T (p.Ala509Val)	rs769577441	0.00001
NM_003042.4(SLC6A1):c.1530C>T (p.Gly510=)	rs199832552	0.00001
NM_003042.4(SLC6A1):c.1664T>C (p.Met555Thr)	rs755011081	0.00001
NM_003042.4(SLC6A1):c.1696-3C>T	rs763356899	0.00001
NM_003042.4(SLC6A1):c.1748G>T (p.Gly583Val)	rs1274193602	0.00001
NM_003042.4(SLC6A1):c.238+5G>T	rs747465142	0.00001
NM_003042.4(SLC6A1):c.28G>A (p.Asp10Asn)	rs751108300	0.00001
NM_003042.4(SLC6A1):c.582-3C>T	rs368174761	0.00001
NM_003042.4(SLC6A1):c.589A>G (p.Met197Val)	rs1031299891	0.00001
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg)	rs1697439559	0.00001
NM_003042.4(SLC6A1):c.714+5G>A	rs770987659	0.00001
NM_003042.4(SLC6A1):c.75C>G (p.Asp25Glu)	rs142007193	0.00001
NM_003042.4(SLC6A1):c.797A>G (p.Glu266Gly)	rs1027128426	0.00001
NM_003042.4(SLC6A1):c.79C>T (p.Pro27Ser)	rs1395387100	0.00001
NM_003042.4(SLC6A1):c.90G>C (p.Leu30Phe)	rs1271404941	0.00001
NM_003042.4(SLC6A1):c.946G>A (p.Val316Ile)	rs1409813316	0.00001
NC_000003.11:g.(?_11058898)_(11078652_?)dup
NC_000003.11:g.(?_11075305)_(11078652_?)dup
NC_000003.12:g.(?_11025429)_(11036986_?)dup
NM_003042.4(SLC6A1):c.1013T>A (p.Ile338Asn)
NM_003042.4(SLC6A1):c.1033A>G (p.Met345Val)
NM_003042.4(SLC6A1):c.1034T>C (p.Met345Thr)	rs1697627975
NM_003042.4(SLC6A1):c.103C>G (p.Gln35Glu)
NM_003042.4(SLC6A1):c.1066G>A (p.Val356Met)	rs1697630365
NM_003042.4(SLC6A1):c.1077A>G (p.Ser359=)
NM_003042.4(SLC6A1):c.1078+4A>G
NM_003042.4(SLC6A1):c.1081C>T (p.Pro361Ser)
NM_003042.4(SLC6A1):c.1091C>T (p.Ala364Val)
NM_003042.4(SLC6A1):c.1096C>A (p.Leu366Met)
NM_003042.4(SLC6A1):c.1106C>T (p.Pro369Leu)	rs2124930745
NM_003042.4(SLC6A1):c.1112C>T (p.Ala371Val)
NM_003042.4(SLC6A1):c.1147A>G (p.Ile383Val)	rs1697751144
NM_003042.4(SLC6A1):c.1150C>G (p.Leu384Val)
NM_003042.4(SLC6A1):c.1178G>A (p.Gly393Asp)	rs2124930941
NM_003042.4(SLC6A1):c.1187G>A (p.Ser396Asn)	rs2124930953
NM_003042.4(SLC6A1):c.118G>A (p.Asp40Asn)
NM_003042.4(SLC6A1):c.1191+3G>A
NM_003042.4(SLC6A1):c.1192-5T>G
NM_003042.4(SLC6A1):c.1192T>C (p.Phe398Leu)
NM_003042.4(SLC6A1):c.1229A>T (p.Asp410Val)
NM_003042.4(SLC6A1):c.1230T>A (p.Asp410Glu)
NM_003042.4(SLC6A1):c.1252A>C (p.Asn418His)
NM_003042.4(SLC6A1):c.1256G>T (p.Arg419Leu)	rs941588071
NM_003042.4(SLC6A1):c.1304G>A (p.Gly435Asp)	rs2124932138
NM_003042.4(SLC6A1):c.1304G>T (p.Gly435Val)
NM_003042.4(SLC6A1):c.1307T>A (p.Leu436His)	rs2124932154
NM_003042.4(SLC6A1):c.131G>C (p.Arg44Pro)	rs794726859
NM_003042.4(SLC6A1):c.1324G>A (p.Gly442Arg)
NM_003042.4(SLC6A1):c.1325G>A (p.Gly442Glu)
NM_003042.4(SLC6A1):c.1345C>T (p.Leu449Phe)
NM_003042.4(SLC6A1):c.1352A>G (p.Asp451Gly)	rs869312680
NM_003042.4(SLC6A1):c.1357T>C (p.Tyr453His)
NM_003042.4(SLC6A1):c.1376G>C (p.Ser459Thr)
NM_003042.4(SLC6A1):c.13G>A (p.Gly5Ser)
NM_003042.4(SLC6A1):c.1402T>C (p.Cys468Arg)	rs1559636673
NM_003042.4(SLC6A1):c.1426+3_1426+6del	rs1553691139
NM_003042.4(SLC6A1):c.1427-9A>G	rs1698019472
NM_003042.4(SLC6A1):c.1427G>A (p.Gly476Asp)	rs1698020197
NM_003042.4(SLC6A1):c.1438T>C (p.Phe480Leu)	rs758351251
NM_003042.4(SLC6A1):c.1439T>C (p.Phe480Ser)
NM_003042.4(SLC6A1):c.143A>T (p.Lys48Met)
NM_003042.4(SLC6A1):c.144G>C (p.Lys48Asn)
NM_003042.4(SLC6A1):c.1453C>G (p.Gln485Glu)
NM_003042.4(SLC6A1):c.1454A>G (p.Gln485Arg)	rs1359645826
NM_003042.4(SLC6A1):c.1458G>C (p.Glu486Asp)
NM_003042.4(SLC6A1):c.1461G>A (p.Met487Ile)	rs1698021866
NM_003042.4(SLC6A1):c.1461_1462insCAG (p.Met487_Val488insGln)	rs1574922559
NM_003042.4(SLC6A1):c.1462G>A (p.Val488Ile)
NM_003042.4(SLC6A1):c.1475C>T (p.Pro492Leu)
NM_003042.4(SLC6A1):c.1477T>C (p.Cys493Arg)	rs2124942534
NM_003042.4(SLC6A1):c.148C>T (p.Arg50Cys)	rs754493263
NM_003042.4(SLC6A1):c.1496G>A (p.Cys499Tyr)	rs1574922621
NM_003042.4(SLC6A1):c.1498T>C (p.Trp500Arg)
NM_003042.4(SLC6A1):c.1504T>C (p.Phe502Leu)	rs1029475140
NM_003042.4(SLC6A1):c.1507T>C (p.Phe503Leu)
NM_003042.4(SLC6A1):c.1513C>G (p.Pro505Ala)	rs1698023649
NM_003042.4(SLC6A1):c.151T>C (p.Phe51Leu)
NM_003042.4(SLC6A1):c.1525G>A (p.Ala509Thr)	rs2124942675
NM_003042.4(SLC6A1):c.1527G>C (p.Ala509=)
NM_003042.4(SLC6A1):c.1528-7T>A	rs754449950
NM_003042.4(SLC6A1):c.1528G>C (p.Gly510Arg)
NM_003042.4(SLC6A1):c.152T>A (p.Phe51Tyr)	rs1553687887
NM_003042.4(SLC6A1):c.154G>T (p.Asp52Tyr)	rs1574891085
NM_003042.4(SLC6A1):c.1557G>T (p.Met519Ile)
NM_003042.4(SLC6A1):c.1573_1574del (p.Gly525fs)
NM_003042.4(SLC6A1):c.1578C>G (p.Asn526Lys)
NM_003042.4(SLC6A1):c.1594T>C (p.Trp532Arg)	rs2124944497
NM_003042.4(SLC6A1):c.1597G>C (p.Gly533Arg)	rs1698067665
NM_003042.4(SLC6A1):c.1598G>A (p.Gly533Asp)
NM_003042.4(SLC6A1):c.1604G>T (p.Gly535Val)
NM_003042.4(SLC6A1):c.1610G>C (p.Gly537Ala)
NM_003042.4(SLC6A1):c.1635G>A (p.Met545Ile)	rs2124944561
NM_003042.4(SLC6A1):c.1640T>G (p.Leu547Arg)	rs1559640513
NM_003042.4(SLC6A1):c.1640del (p.Leu547fs)	rs1698068785
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg)	rs886042046
NM_003042.4(SLC6A1):c.1648G>C (p.Gly550Arg)	rs886042046
NM_003042.4(SLC6A1):c.1655T>A (p.Met552Lys)	rs1368412515
NM_003042.4(SLC6A1):c.1658C>A (p.Ala553Asp)	rs1559640572
NM_003042.4(SLC6A1):c.165G>A (p.Met55Ile)
NM_003042.4(SLC6A1):c.1681G>A (p.Gly561Ser)	rs1574925115
NM_003042.4(SLC6A1):c.1695+3A>G	rs1559640624
NM_003042.4(SLC6A1):c.1696C>T (p.Arg566Cys)
NM_003042.4(SLC6A1):c.169T>G (p.Cys57Gly)	rs1697196424
NM_003042.4(SLC6A1):c.1705G>A (p.Val569Ile)	rs1193651446
NM_003042.4(SLC6A1):c.170G>A (p.Cys57Tyr)	rs2124905489
NM_003042.4(SLC6A1):c.170G>T (p.Cys57Phe)
NM_003042.4(SLC6A1):c.1710G>T (p.Met570Ile)
NM_003042.4(SLC6A1):c.1723G>A (p.Glu575Lys)
NM_003042.4(SLC6A1):c.1738C>G (p.Pro580Ala)	rs747243516
NM_003042.4(SLC6A1):c.1753G>C (p.Glu585Gln)	rs1698165983
NM_003042.4(SLC6A1):c.1773C>G (p.Ser591Arg)	rs956462752
NM_003042.4(SLC6A1):c.1777A>C (p.Thr593Pro)	rs1698167143
NM_003042.4(SLC6A1):c.1781G>A (p.Ser594Asn)
NM_003042.4(SLC6A1):c.1789G>A (p.Ala597Thr)
NM_003042.4(SLC6A1):c.179A>G (p.Tyr60Cys)
NM_003042.4(SLC6A1):c.182C>T (p.Ala61Val)	rs2124905520
NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser)	rs1057523845
NM_003042.4(SLC6A1):c.194G>T (p.Gly65Val)	rs1697197329
NM_003042.4(SLC6A1):c.207G>C (p.Arg69Ser)
NM_003042.4(SLC6A1):c.215A>G (p.Tyr72Cys)
NM_003042.4(SLC6A1):c.218T>C (p.Leu73Pro)
NM_003042.4(SLC6A1):c.237G>A (p.Gly79=)	rs1392190073
NM_003042.4(SLC6A1):c.242C>A (p.Ala81Asp)	rs2124906663
NM_003042.4(SLC6A1):c.250A>T (p.Ile84Phe)
NM_003042.4(SLC6A1):c.252C>G (p.Ile84Met)	rs1697220075
NM_003042.4(SLC6A1):c.268C>G (p.Leu90Val)	rs2124906730
NM_003042.4(SLC6A1):c.292T>G (p.Phe98Val)	rs2124906828
NM_003042.4(SLC6A1):c.299T>C (p.Leu100Pro)	rs2124906844
NM_003042.4(SLC6A1):c.302A>C (p.Glu101Ala)
NM_003042.4(SLC6A1):c.305G>T (p.Cys102Phe)	rs1553688027
NM_003042.4(SLC6A1):c.307T>C (p.Ser103Pro)	rs1574892346
NM_003042.4(SLC6A1):c.310C>G (p.Leu104Val)
NM_003042.4(SLC6A1):c.313G>T (p.Gly105Cys)	rs144322561
NM_003042.4(SLC6A1):c.314G>A (p.Gly105Asp)	rs1697222986
NM_003042.4(SLC6A1):c.322A>G (p.Thr108Ala)	rs1574892400
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu)	rs1574892457
NM_003042.4(SLC6A1):c.332G>T (p.Gly111Val)	rs1574892457
NM_003042.4(SLC6A1):c.361A>G (p.Met121Val)	rs2124907057
NM_003042.4(SLC6A1):c.37A>G (p.Ile13Val)	rs1553687808
NM_003042.4(SLC6A1):c.37A>T (p.Ile13Phe)	rs1553687808
NM_003042.4(SLC6A1):c.386C>T (p.Ala129Val)	rs1697262028
NM_003042.4(SLC6A1):c.395T>C (p.Leu132Pro)	rs2124908640
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys)	rs2124908722
NM_003042.4(SLC6A1):c.438G>T (p.Trp146Cys)	rs2124908813
NM_003042.4(SLC6A1):c.452T>C (p.Leu151Pro)
NM_003042.4(SLC6A1):c.452T>G (p.Leu151Arg)	rs1697264679
NM_003042.4(SLC6A1):c.469A>G (p.Thr157Ala)	rs2124908883
NM_003042.4(SLC6A1):c.46G>A (p.Glu16Lys)
NM_003042.4(SLC6A1):c.470C>T (p.Thr157Met)
NM_003042.4(SLC6A1):c.471+5G>A	rs2124908923
NM_003042.4(SLC6A1):c.493G>A (p.Asp165Asn)	rs748779390
NM_003042.4(SLC6A1):c.502T>C (p.Trp168Arg)
NM_003042.4(SLC6A1):c.506A>T (p.Asn169Ile)
NM_003042.4(SLC6A1):c.515G>A (p.Arg172His)
NM_003042.4(SLC6A1):c.521T>C (p.Phe174Ser)
NM_003042.4(SLC6A1):c.527A>G (p.Asn176Ser)
NM_003042.4(SLC6A1):c.548C>T (p.Thr183Ile)
NM_003042.4(SLC6A1):c.54C>T (p.Ser18=)	rs1697188624
NM_003042.4(SLC6A1):c.553A>G (p.Met185Val)	rs1697341413
NM_003042.4(SLC6A1):c.576C>A (p.Phe192Leu)	rs1697342927
NM_003042.4(SLC6A1):c.578G>T (p.Trp193Leu)	rs1697343079
NM_003042.4(SLC6A1):c.581+3G>A	rs1442190993
NM_003042.4(SLC6A1):c.581+3G>C	rs1442190993
NM_003042.4(SLC6A1):c.583C>A (p.Arg195Ser)	rs769934894
NM_003042.4(SLC6A1):c.59C>T (p.Ala20Val)
NM_003042.4(SLC6A1):c.602C>T (p.Thr201Met)
NM_003042.4(SLC6A1):c.606C>A (p.Asp202Glu)
NM_003042.4(SLC6A1):c.606C>G (p.Asp202Glu)	rs146894194
NM_003042.4(SLC6A1):c.622G>C (p.Gly208Arg)	rs1697440696
NM_003042.4(SLC6A1):c.631C>T (p.Arg211Cys)
NM_003042.4(SLC6A1):c.650C>T (p.Thr217Met)	rs1396036517
NM_003042.4(SLC6A1):c.658_663del (p.Ile220_Ala221del)
NM_003042.4(SLC6A1):c.70A>C (p.Asn24His)
NM_003042.4(SLC6A1):c.715-4C>A
NM_003042.4(SLC6A1):c.715G>A (p.Val239Met)	rs2124924012
NM_003042.4(SLC6A1):c.719T>C (p.Val240Ala)	rs1184399068
NM_003042.4(SLC6A1):c.724T>A (p.Phe242Ile)
NM_003042.4(SLC6A1):c.740C>T (p.Pro247Leu)	rs1057524158
NM_003042.4(SLC6A1):c.743A>T (p.Tyr248Phe)
NM_003042.4(SLC6A1):c.767T>C (p.Phe256Ser)	rs1559629753
NM_003042.4(SLC6A1):c.773G>A (p.Gly258Glu)
NM_003042.4(SLC6A1):c.781C>G (p.Leu261Val)
NM_003042.4(SLC6A1):c.799G>A (p.Gly267Ser)	rs2124924313
NM_003042.4(SLC6A1):c.803T>C (p.Ile268Thr)
NM_003042.4(SLC6A1):c.805C>T (p.Leu269Phe)	rs2124924355
NM_003042.4(SLC6A1):c.814A>G (p.Ile272Val)	rs910919772
NM_003042.4(SLC6A1):c.821C>G (p.Pro274Arg)	rs2124924416
NM_003042.4(SLC6A1):c.830G>T (p.Arg277Leu)
NM_003042.4(SLC6A1):c.832A>C (p.Lys278Gln)
NM_003042.4(SLC6A1):c.847G>A (p.Glu283Lys)	rs1697587984
NM_003042.4(SLC6A1):c.849G>C (p.Glu283Asp)
NM_003042.4(SLC6A1):c.850G>T (p.Val284Leu)	rs1559630133
NM_003042.4(SLC6A1):c.853T>C (p.Trp285Arg)	rs1559630143
NM_003042.4(SLC6A1):c.856C>G (p.Leu286Val)
NM_003042.4(SLC6A1):c.866C>T (p.Ala289Val)	rs1697597168
NM_003042.4(SLC6A1):c.875T>C (p.Ile292Thr)
NM_003042.4(SLC6A1):c.884C>T (p.Ser295Leu)	rs1574907241
NM_003042.4(SLC6A1):c.890G>T (p.Gly297Val)	rs1697598818
NM_003042.4(SLC6A1):c.904T>A (p.Ser302Thr)	rs1574907293
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr)	rs1391625316
NM_003042.4(SLC6A1):c.930C>A (p.Asn310Lys)	rs1697600999
NM_003042.4(SLC6A1):c.939C>A (p.His313Gln)
NM_003042.4(SLC6A1):c.943A>G (p.Asn315Asp)	rs768276892
NM_003042.4(SLC6A1):c.953G>T (p.Arg318Met)
NM_003042.4(SLC6A1):c.967G>T (p.Val323Phe)	rs1403165900
NM_003042.4(SLC6A1):c.968T>A (p.Val323Asp)
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu)	rs1334690406
NM_003042.4(SLC6A1):c.983C>T (p.Ser328Leu)	rs779431997
NM_003042.4(SLC6A1):c.985T>A (p.Cys329Ser)
NM_003042.4(SLC6A1):c.988A>C (p.Thr330Pro)
NM_003042.4(SLC6A1):c.990_991delinsAG (p.Ser331Gly)	rs1697624889

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