ClinVar Miner

List of variants in gene SLC6A8 reported as uncertain significance for congenital nervous system disorder

Included ClinVar conditions (840):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg) rs782560726 0.00024
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) rs868950793 0.00011
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met) rs782208622 0.00005
NM_005629.4(SLC6A8):c.1313A>T (p.Tyr438Phe) rs1403716189 0.00004
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971 0.00003
NM_005629.4(SLC6A8):c.146T>C (p.Val49Ala) rs1557043838 0.00002
NM_005629.4(SLC6A8):c.1627G>A (p.Glu543Lys) rs782028471 0.00002
NM_005629.4(SLC6A8):c.1767G>A (p.Glu589=) rs1131691726 0.00002
NM_005629.4(SLC6A8):c.1819C>G (p.Arg607Gly) rs1377233837 0.00002
NM_005629.4(SLC6A8):c.421G>A (p.Val141Ile) rs1557044413 0.00002
NM_005629.4(SLC6A8):c.70G>C (p.Ala24Pro) rs1557043775 0.00002
NM_005629.4(SLC6A8):c.760G>A (p.Val254Ile) rs782287359 0.00002
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg) rs1233444890 0.00002
NM_005629.4(SLC6A8):c.1089G>A (p.Leu363=) rs1557045154 0.00001
NM_005629.4(SLC6A8):c.1172G>A (p.Arg391Gln) rs782676733 0.00001
NM_005629.4(SLC6A8):c.1196C>T (p.Ala399Val) rs1557045287 0.00001
NM_005629.4(SLC6A8):c.127C>T (p.Pro43Ser) rs1185738875 0.00001
NM_005629.4(SLC6A8):c.1302G>A (p.Pro434=) rs1463546168 0.00001
NM_005629.4(SLC6A8):c.1310A>C (p.Tyr437Ser) rs1557045400 0.00001
NM_005629.4(SLC6A8):c.1405G>A (p.Val469Ile) rs1557045470 0.00001
NM_005629.4(SLC6A8):c.1511T>C (p.Met504Thr) rs1557045552 0.00001
NM_005629.4(SLC6A8):c.1768C>T (p.Arg590Cys) rs2314078 0.00001
NM_005629.4(SLC6A8):c.1888G>A (p.Val630Met) rs373570632 0.00001
NM_005629.4(SLC6A8):c.463G>A (p.Gly155Ser) rs782174461 0.00001
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn) rs1261794545 0.00001
NM_005629.4(SLC6A8):c.56A>C (p.Lys19Thr) rs1238996324 0.00001
NM_005629.4(SLC6A8):c.620G>A (p.Arg207Gln) rs1175883803 0.00001
NM_005629.4(SLC6A8):c.896A>C (p.Lys299Thr) rs782767368 0.00001
NM_005629.4(SLC6A8):c.89C>T (p.Ala30Val) rs782598816 0.00001
NM_005629.4(SLC6A8):c.1009T>C (p.Cys337Arg) rs2091468099
NM_005629.4(SLC6A8):c.1017-4_1023dup rs2091469083
NM_005629.4(SLC6A8):c.1024ATC[1] (p.Ile343del) rs2091469148
NM_005629.4(SLC6A8):c.1036C>G (p.Leu346Val)
NM_005629.4(SLC6A8):c.1048G>A (p.Gly350Arg) rs2148363200
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=) rs1603216989
NM_005629.4(SLC6A8):c.1072_1095del (p.Val358_Phe365del) rs886041471
NM_005629.4(SLC6A8):c.107G>T (p.Gly36Val) rs1557043804
NM_005629.4(SLC6A8):c.109C>T (p.Pro37Ser)
NM_005629.4(SLC6A8):c.1124C>G (p.Ser375Cys) rs2148363255
NM_005629.4(SLC6A8):c.116G>A (p.Gly39Asp) rs781997638
NM_005629.4(SLC6A8):c.1184T>C (p.Leu395Pro) rs1557045281
NM_005629.4(SLC6A8):c.118C>A (p.Leu40Met)
NM_005629.4(SLC6A8):c.11A>G (p.Lys4Arg)
NM_005629.4(SLC6A8):c.1214T>C (p.Leu405Pro) rs2091472678
NM_005629.4(SLC6A8):c.1232T>C (p.Leu411Ser) rs2091472802
NM_005629.4(SLC6A8):c.1235T>C (p.Leu412Pro) rs2148363751
NM_005629.4(SLC6A8):c.1246G>A (p.Asp416Asn)
NM_005629.4(SLC6A8):c.1247A>G (p.Asp416Gly) rs2148363766
NM_005629.4(SLC6A8):c.1249A>C (p.Ser417Arg) rs2091472899
NM_005629.4(SLC6A8):c.1251C>A (p.Ser417Arg)
NM_005629.4(SLC6A8):c.1258G>A (p.Val420Ile) rs1569539415
NM_005629.4(SLC6A8):c.1262G>A (p.Gly421Asp) rs1085308011
NM_005629.4(SLC6A8):c.1264G>A (p.Val422Met)
NM_005629.4(SLC6A8):c.1282G>A (p.Gly428Ser) rs2060322395
NM_005629.4(SLC6A8):c.1285C>T (p.Leu429Phe)
NM_005629.4(SLC6A8):c.1294C>G (p.Leu432Val)
NM_005629.4(SLC6A8):c.12G>C (p.Lys4Asn)
NM_005629.4(SLC6A8):c.1301C>T (p.Pro434Leu) rs2091474324
NM_005629.4(SLC6A8):c.130G>A (p.Gly44Ser) rs2091437228
NM_005629.4(SLC6A8):c.1310A>G (p.Tyr437Cys) rs1557045400
NM_005629.4(SLC6A8):c.1323C>G (p.Phe441Leu)
NM_005629.4(SLC6A8):c.1330G>A (p.Glu444Lys)
NM_005629.4(SLC6A8):c.1333A>T (p.Ile445Phe) rs2091474639
NM_005629.4(SLC6A8):c.1350_1361del (p.Cys451_Cys454del) rs2148364040
NM_005629.4(SLC6A8):c.1366G>A (p.Val456Ile)
NM_005629.4(SLC6A8):c.137G>T (p.Arg46Leu)
NM_005629.4(SLC6A8):c.1392+14_1392+38del
NM_005629.4(SLC6A8):c.1392T>C (p.Asp464=)
NM_005629.4(SLC6A8):c.1392_1392+2dup
NM_005629.4(SLC6A8):c.1393-19A>G
NM_005629.4(SLC6A8):c.1393-6C>G rs2148364146
NM_005629.4(SLC6A8):c.1418T>C (p.Phe473Ser) rs2148364186
NM_005629.4(SLC6A8):c.1438G>A (p.Gly480Ser) rs2148364228
NM_005629.4(SLC6A8):c.1439G>A (p.Gly480Asp)
NM_005629.4(SLC6A8):c.145G>C (p.Val49Leu) rs1463935788
NM_005629.4(SLC6A8):c.1476G>A (p.Val492=)
NM_005629.4(SLC6A8):c.1478T>C (p.Val493Ala)
NM_005629.4(SLC6A8):c.148C>T (p.Pro50Ser) rs2148358552
NM_005629.4(SLC6A8):c.1495+4G>A
NM_005629.4(SLC6A8):c.1495G>A (p.Gly499Arg)
NM_005629.4(SLC6A8):c.1498G>A (p.Ala500Thr) rs2148364400
NM_005629.4(SLC6A8):c.149C>A (p.Pro50Gln)
NM_005629.4(SLC6A8):c.1501G>A (p.Asp501Asn) rs2091476989
NM_005629.4(SLC6A8):c.1515C>G (p.Asp505Glu) rs151335200
NM_005629.4(SLC6A8):c.1526G>A (p.Cys509Tyr) rs2148364452
NM_005629.4(SLC6A8):c.1527T>G (p.Cys509Trp) rs2148364458
NM_005629.4(SLC6A8):c.152C>T (p.Pro51Leu) rs2091437446
NM_005629.4(SLC6A8):c.1541G>C (p.Arg514Pro)
NM_005629.4(SLC6A8):c.1557G>A (p.Met519Ile)
NM_005629.4(SLC6A8):c.1574T>C (p.Phe525Ser)
NM_005629.4(SLC6A8):c.1596+6G>A
NM_005629.4(SLC6A8):c.1624T>C (p.Tyr542His) rs2148364687
NM_005629.4(SLC6A8):c.1639T>C (p.Tyr547His)
NM_005629.4(SLC6A8):c.1640ACA[2] (p.Asn549del) rs781807874
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr) rs1603217815
NM_005629.4(SLC6A8):c.1713C>G (p.Cys571Trp) rs782244505
NM_005629.4(SLC6A8):c.1721T>C (p.Leu574Pro)
NM_005629.4(SLC6A8):c.1732G>A (p.Gly578Ser)
NM_005629.4(SLC6A8):c.1738C>G (p.Leu580Val)
NM_005629.4(SLC6A8):c.1760T>C (p.Met587Thr)
NM_005629.4(SLC6A8):c.1767+6G>C
NM_005629.4(SLC6A8):c.1767+9C>G rs782076464
NM_005629.4(SLC6A8):c.1790C>T (p.Pro597Leu) rs1060502811
NM_005629.4(SLC6A8):c.1794C>G (p.Ile598Met) rs782587560
NM_005629.4(SLC6A8):c.1798G>A (p.Gly600Ser) rs1557045828
NM_005629.4(SLC6A8):c.1799G>A (p.Gly600Asp) rs2148365237
NM_005629.4(SLC6A8):c.1809C>G (p.His603Gln)
NM_005629.4(SLC6A8):c.1813G>A (p.Glu605Lys)
NM_005629.4(SLC6A8):c.1819C>T (p.Arg607Ter) rs1377233837
NM_005629.4(SLC6A8):c.1820G>A (p.Arg607Gln) rs1557045843
NM_005629.4(SLC6A8):c.1828G>C (p.Asp610His) rs2148365271
NM_005629.4(SLC6A8):c.1846C>A (p.Leu616Met)
NM_005629.4(SLC6A8):c.1853C>T (p.Thr618Ile) rs1557045853
NM_005629.4(SLC6A8):c.1864G>C (p.Val622Leu) rs1160275875
NM_005629.4(SLC6A8):c.1881_1882insT (p.Val628fs)
NM_005629.4(SLC6A8):c.1901T>A (p.Val634Asp) rs1236176576
NM_005629.4(SLC6A8):c.191_193del (p.Ser64del) rs2091437670
NM_005629.4(SLC6A8):c.196G>A (p.Val66Met)
NM_005629.4(SLC6A8):c.230G>A (p.Arg77His)
NM_005629.4(SLC6A8):c.237C>G (p.Pro79=) rs2148358626
NM_005629.4(SLC6A8):c.238T>G (p.Tyr80Asp)
NM_005629.4(SLC6A8):c.242T>G (p.Leu81Arg)
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg) rs122453115
NM_005629.4(SLC6A8):c.25G>T (p.Gly9Cys) rs2091436097
NM_005629.4(SLC6A8):c.263-3C>T rs1557044164
NM_005629.4(SLC6A8):c.263G>A (p.Gly88Asp)
NM_005629.4(SLC6A8):c.305G>A (p.Gly102Glu) rs2148360123
NM_005629.4(SLC6A8):c.322T>A (p.Leu108Ile) rs2148360140
NM_005629.4(SLC6A8):c.327G>T (p.Glu109Asp)
NM_005629.4(SLC6A8):c.332C>T (p.Ser111Leu) rs782704042
NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys) rs1569539246
NM_005629.4(SLC6A8):c.395-3C>T
NM_005629.4(SLC6A8):c.406G>A (p.Ala136Thr) rs1557044406
NM_005629.4(SLC6A8):c.407C>G (p.Ala136Gly)
NM_005629.4(SLC6A8):c.407C>T (p.Ala136Val)
NM_005629.4(SLC6A8):c.413T>A (p.Met138Lys)
NM_005629.4(SLC6A8):c.420C>G (p.Ile140Met)
NM_005629.4(SLC6A8):c.437C>T (p.Thr146Ile)
NM_005629.4(SLC6A8):c.464G>T (p.Gly155Val)
NM_005629.4(SLC6A8):c.467_469del (p.Phe156del) rs2091455264
NM_005629.4(SLC6A8):c.48C>A (p.Asp16Glu) rs1057524586
NM_005629.4(SLC6A8):c.496A>G (p.Thr166Ala) rs1603215030
NM_005629.4(SLC6A8):c.51G>C (p.Glu17Asp) rs2091436339
NM_005629.4(SLC6A8):c.524C>T (p.Thr175Ile)
NM_005629.4(SLC6A8):c.527G>C (p.Trp176Ser) rs2148361058
NM_005629.4(SLC6A8):c.548A>G (p.Glu183Gly)
NM_005629.4(SLC6A8):c.581G>A (p.Ser194Asn)
NM_005629.4(SLC6A8):c.592C>A (p.Leu198Ile) rs1557044451
NM_005629.4(SLC6A8):c.593T>G (p.Leu198Arg)
NM_005629.4(SLC6A8):c.602A>G (p.Asp201Gly)
NM_005629.4(SLC6A8):c.611C>T (p.Ala204Val) rs781871613
NM_005629.4(SLC6A8):c.617G>A (p.Arg206His)
NM_005629.4(SLC6A8):c.631_633delinsTGG (p.Ile211Trp)
NM_005629.4(SLC6A8):c.644+3_644+6del rs1064795351
NM_005629.4(SLC6A8):c.644A>G (p.Glu215Gly) rs2091456256
NM_005629.4(SLC6A8):c.645-16_645-15inv
NM_005629.4(SLC6A8):c.667G>A (p.Gly223Arg)
NM_005629.4(SLC6A8):c.706A>T (p.Thr236Ser) rs1328810626
NM_005629.4(SLC6A8):c.742T>C (p.Phe248Leu)
NM_005629.4(SLC6A8):c.777+6A>G rs2148361744
NM_005629.4(SLC6A8):c.778-10G>A
NM_005629.4(SLC6A8):c.787T>C (p.Phe263Leu)
NM_005629.4(SLC6A8):c.841C>A (p.Leu281Met) rs2091466286
NM_005629.4(SLC6A8):c.859G>C (p.Asp287His)
NM_005629.4(SLC6A8):c.864C>T (p.Gly288=) rs2148362802
NM_005629.4(SLC6A8):c.868A>G (p.Ile290Val)
NM_005629.4(SLC6A8):c.8AGA[1] (p.Lys4del) rs2148358298
NM_005629.4(SLC6A8):c.901G>C (p.Gly301Arg) rs2091466491
NM_005629.4(SLC6A8):c.912+6G>C
NM_005629.4(SLC6A8):c.912G>C (p.Gln304His) rs1064794836
NM_005629.4(SLC6A8):c.91C>A (p.Pro31Thr)
NM_005629.4(SLC6A8):c.947C>T (p.Ser316Phe) rs2148362940
NM_005629.4(SLC6A8):c.964G>C (p.Gly322Arg) rs1603216830
NM_005629.4(SLC6A8):c.993C>G (p.Asn331Lys)

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