ClinVar Miner

List of variants in gene SLC6A8 reported as uncertain significance for not provided

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Gene type:
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Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147 0.00032
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) rs868950793 0.00011
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met) rs1301772452 0.00008
NM_005629.4(SLC6A8):c.1025T>C (p.Ile342Thr) rs781962672 0.00006
NM_005629.4(SLC6A8):c.1221C>T (p.Phe407=) rs782066930 0.00005
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr) rs782790088 0.00005
NM_005629.4(SLC6A8):c.1874G>A (p.Ser625Asn) rs1181103233 0.00005
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met) rs782208622 0.00005
NM_005629.4(SLC6A8):c.1714G>A (p.Val572Met) rs2872524 0.00004
NM_005629.4(SLC6A8):c.283G>A (p.Val95Ile) rs782040427 0.00004
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val) rs782551106 0.00003
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971 0.00003
NM_005629.4(SLC6A8):c.1767G>A (p.Glu589=) rs1131691726 0.00002
NM_005629.4(SLC6A8):c.1879A>C (p.Lys627Gln) rs201637740 0.00002
NM_005629.4(SLC6A8):c.421G>A (p.Val141Ile) rs1557044413 0.00002
NM_005629.4(SLC6A8):c.1008C>T (p.Asn336=) rs782239150 0.00001
NM_005629.4(SLC6A8):c.1131G>A (p.Val377=) rs1569539384 0.00001
NM_005629.4(SLC6A8):c.1172G>A (p.Arg391Gln) rs782676733 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.1319G>A (p.Arg440His) rs781925657 0.00001
NM_005629.4(SLC6A8):c.1405G>A (p.Val469Ile) rs1557045470 0.00001
NM_005629.4(SLC6A8):c.1512G>T (p.Met504Ile) rs782325571 0.00001
NM_005629.4(SLC6A8):c.1525T>C (p.Cys509Arg) rs782000377 0.00001
NM_005629.4(SLC6A8):c.1650C>G (p.Thr550=) rs781811330 0.00001
NM_005629.4(SLC6A8):c.1888G>A (p.Val630Met) rs373570632 0.00001
NM_005629.4(SLC6A8):c.56A>C (p.Lys19Thr) rs1238996324 0.00001
NM_005629.4(SLC6A8):c.896A>C (p.Lys299Thr) rs782767368 0.00001
NM_005629.4(SLC6A8):c.913-8T>C rs1557045039 0.00001
NM_005629.4(SLC6A8):c.-6G>T rs1158351366
NM_005629.4(SLC6A8):c.1016+5G>A rs2148363009
NM_005629.4(SLC6A8):c.1071C>G (p.Phe357Leu) rs782782179
NM_005629.4(SLC6A8):c.1072G>C (p.Val358Leu) rs781834528
NM_005629.4(SLC6A8):c.1103C>T (p.Ala368Val)
NM_005629.4(SLC6A8):c.113T>A (p.Val38Glu) rs2148358486
NM_005629.4(SLC6A8):c.1161C>G (p.Ile387Met) rs782582952
NM_005629.4(SLC6A8):c.1201C>A (p.Leu401Ile)
NM_005629.4(SLC6A8):c.1214T>C (p.Leu405Pro) rs2091472678
NM_005629.4(SLC6A8):c.1218C>A (p.Phe406Leu) rs1557045310
NM_005629.4(SLC6A8):c.1254+5G>C
NM_005629.4(SLC6A8):c.1310A>G (p.Tyr437Cys) rs1557045400
NM_005629.4(SLC6A8):c.1333A>T (p.Ile445Phe) rs2091474639
NM_005629.4(SLC6A8):c.1379C>G (p.Ser460Cys)
NM_005629.4(SLC6A8):c.1390G>T (p.Asp464Tyr)
NM_005629.4(SLC6A8):c.1393-6C>G rs2148364146
NM_005629.4(SLC6A8):c.1393-8T>G rs1557045456
NM_005629.4(SLC6A8):c.1394G>A (p.Gly465Asp)
NM_005629.4(SLC6A8):c.1430C>T (p.Ser477Leu) rs2148364216
NM_005629.4(SLC6A8):c.1438G>A (p.Gly480Ser) rs2148364228
NM_005629.4(SLC6A8):c.1481T>C (p.Val494Ala)
NM_005629.4(SLC6A8):c.1526G>A (p.Cys509Tyr) rs2148364452
NM_005629.4(SLC6A8):c.1534G>A (p.Gly512Arg)
NM_005629.4(SLC6A8):c.1553G>T (p.Trp518Leu) rs1569539454
NM_005629.4(SLC6A8):c.1574T>C (p.Phe525Ser)
NM_005629.4(SLC6A8):c.15C>A (p.Ser5Arg) rs1557043724
NM_005629.4(SLC6A8):c.1640ACA[2] (p.Asn549del) rs781807874
NM_005629.4(SLC6A8):c.1693G>A (p.Ala565Thr)
NM_005629.4(SLC6A8):c.1696C>G (p.Leu566Val) rs1557045724
NM_005629.4(SLC6A8):c.1761G>C (p.Met587Ile) rs2148364886
NM_005629.4(SLC6A8):c.1762G>A (p.Ala588Thr)
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.1853C>T (p.Thr618Ile) rs1557045853
NM_005629.4(SLC6A8):c.1888G>T (p.Val630Leu) rs373570632
NM_005629.4(SLC6A8):c.1901T>A (p.Val634Asp) rs1236176576
NM_005629.4(SLC6A8):c.1901T>C (p.Val634Ala) rs1236176576
NM_005629.4(SLC6A8):c.247T>C (p.Tyr83His)
NM_005629.4(SLC6A8):c.262+6T>C rs878853039
NM_005629.4(SLC6A8):c.289A>G (p.Ile97Val) rs2091448720
NM_005629.4(SLC6A8):c.295C>G (p.Leu99Val) rs2091448804
NM_005629.4(SLC6A8):c.299T>C (p.Val100Ala)
NM_005629.4(SLC6A8):c.323T>C (p.Leu108Ser)
NM_005629.4(SLC6A8):c.332C>T (p.Ser111Leu) rs782704042
NM_005629.4(SLC6A8):c.439TAC[1] (p.Tyr148del)
NM_005629.4(SLC6A8):c.457G>A (p.Ala153Thr)
NM_005629.4(SLC6A8):c.48C>A (p.Asp16Glu) rs1057524586
NM_005629.4(SLC6A8):c.491C>T (p.Thr164Ile)
NM_005629.4(SLC6A8):c.493A>C (p.Thr165Pro)
NM_005629.4(SLC6A8):c.538G>A (p.Asp180Asn)
NM_005629.4(SLC6A8):c.548A>G (p.Glu183Gly)
NM_005629.4(SLC6A8):c.551T>A (p.Ile184Asn)
NM_005629.4(SLC6A8):c.593T>G (p.Leu198Arg)
NM_005629.4(SLC6A8):c.611_612delinsAC (p.Ala204Asp) rs1569539288
NM_005629.4(SLC6A8):c.667G>A (p.Gly223Arg)
NM_005629.4(SLC6A8):c.716T>C (p.Leu239Pro) rs2148361704
NM_005629.4(SLC6A8):c.778-8C>G rs781860529
NM_005629.4(SLC6A8):c.7A>G (p.Lys3Glu)
NM_005629.4(SLC6A8):c.877C>G (p.Leu293Val)
NM_005629.4(SLC6A8):c.905C>G (p.Ser302Cys) rs1183910478
NM_005629.4(SLC6A8):c.912+2T>C
NM_005629.4(SLC6A8):c.913G>A (p.Val305Met) rs1603216798
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs) rs1603216806
NM_005629.4(SLC6A8):c.964G>T (p.Gly322Trp) rs1603216830
NM_005629.4(SLC6A8):c.980T>C (p.Leu327Pro) rs1557045056

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