ClinVar Miner

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

Included ClinVar conditions (854):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 123
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_005629.4(SLC6A8):c.394+88G>A rs6643763 0.09180
NM_005629.4(SLC6A8):c.1496-5C>T rs200695210 0.00491
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_005629.4(SLC6A8):c.1141+18G>A rs187400676 0.00362
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896 0.00334
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_005629.4(SLC6A8):c.1496-18C>T rs201867256 0.00203
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=) rs148232368 0.00177
NM_005629.4(SLC6A8):c.603C>T (p.Asp201=) rs143019641 0.00073
NM_005629.4(SLC6A8):c.1142-19G>A rs77129489 0.00070
NM_005629.4(SLC6A8):c.777+4C>T rs201581661 0.00063
NM_005629.4(SLC6A8):c.1597-19G>A rs202118923 0.00057
NM_005629.4(SLC6A8):c.1016+9C>T rs190690083 0.00047
NM_005629.4(SLC6A8):c.1626C>T (p.Tyr542=) rs140601882 0.00042
NM_005629.4(SLC6A8):c.1496-8C>T rs376038235 0.00038
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) rs201526436 0.00036
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser) rs199635059 0.00033
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) rs374163604 0.00032
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147 0.00032
NM_005629.4(SLC6A8):c.1767+15C>T rs370331295 0.00029
NM_005629.4(SLC6A8):c.1584G>A (p.Pro528=) rs201838389 0.00028
NM_005629.4(SLC6A8):c.1020C>T (p.Asp340=) rs144252036 0.00024
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val) rs145438966 0.00024
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg) rs782560726 0.00024
NM_005629.4(SLC6A8):c.1890G>C (p.Val630=) rs376385129 0.00023
NM_005629.4(SLC6A8):c.807C>T (p.Tyr269=) rs141219551 0.00023
NM_005629.4(SLC6A8):c.645-14C>T rs782227426 0.00021
NM_005629.4(SLC6A8):c.819C>T (p.Val273=) rs143750068 0.00021
NM_005629.4(SLC6A8):c.1016+10G>A rs371905179 0.00017
NM_005629.4(SLC6A8):c.645-6C>T rs377181706 0.00016
NM_005629.4(SLC6A8):c.1016+12C>T rs182984520 0.00014
NM_005629.4(SLC6A8):c.1473C>T (p.Cys491=) rs122453118 0.00013
NM_005629.4(SLC6A8):c.826C>T (p.Leu276=) rs138634140 0.00011
NM_005629.4(SLC6A8):c.87G>C (p.Gly29=) rs782373793 0.00011
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) rs868950793 0.00011
NM_005629.4(SLC6A8):c.1496-4G>A rs782589547 0.00010
NM_005629.4(SLC6A8):c.1662G>A (p.Pro554=) rs149677083 0.00010
NM_005629.4(SLC6A8):c.912+9G>A rs782694291 0.00010
NM_005629.4(SLC6A8):c.1141+6G>A rs373124777 0.00009
NM_005629.4(SLC6A8):c.1680G>A (p.Met560Ile) rs781816805 0.00009
NM_005629.4(SLC6A8):c.282C>T (p.Tyr94=) rs375818489 0.00009
NM_005629.4(SLC6A8):c.856C>T (p.Leu286=) rs782005985 0.00009
NM_005629.4(SLC6A8):c.1155C>T (p.Ala385=) rs782477779 0.00008
NM_005629.4(SLC6A8):c.1497A>G (p.Gly499=) rs199640501 0.00008
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met) rs1301772452 0.00008
NM_005629.4(SLC6A8):c.1597-20C>T rs781894858 0.00007
NM_005629.4(SLC6A8):c.1113C>T (p.Gly371=) rs1411836045 0.00006
NM_005629.4(SLC6A8):c.1254+6C>T rs782764159 0.00006
NM_005629.4(SLC6A8):c.1496-17G>A rs375265267 0.00006
NM_005629.4(SLC6A8):c.831G>A (p.Val277=) rs149357346 0.00006
NM_005629.4(SLC6A8):c.1221C>T (p.Phe407=) rs782066930 0.00005
NM_005629.4(SLC6A8):c.1506C>T (p.Arg502=) rs782374700 0.00005
NM_005629.4(SLC6A8):c.1597-5C>T rs376073223 0.00005
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr) rs782790088 0.00005
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=) rs782244505 0.00005
NM_005629.4(SLC6A8):c.1767+19C>G rs782515219 0.00005
NM_005629.4(SLC6A8):c.1884C>T (p.Val628=) rs782808736 0.00005
NM_005629.4(SLC6A8):c.395-4C>T rs782654694 0.00005
NM_005629.4(SLC6A8):c.498G>A (p.Thr166=) rs201260657 0.00005
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met) rs782208622 0.00005
NM_005629.4(SLC6A8):c.913-14C>T rs368054317 0.00005
NM_005629.4(SLC6A8):c.1392+12G>T rs782113493 0.00004
NM_005629.4(SLC6A8):c.1615G>A (p.Val539Ile) rs782354054 0.00004
NM_005629.4(SLC6A8):c.1632G>A (p.Pro544=) rs782393373 0.00004
NM_005629.4(SLC6A8):c.306A>G (p.Gly102=) rs781983557 0.00004
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=) rs782517934 0.00004
NM_005629.4(SLC6A8):c.1017-5C>T rs782402297 0.00003
NM_005629.4(SLC6A8):c.1047T>C (p.Ser349=) rs372928878 0.00003
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val) rs782551106 0.00003
NM_005629.4(SLC6A8):c.1474G>A (p.Val492Met) rs782478865 0.00003
NM_005629.4(SLC6A8):c.1541G>A (p.Arg514Gln) rs782361856 0.00003
NM_005629.4(SLC6A8):c.495C>T (p.Thr165=) rs144904949 0.00003
NM_005629.4(SLC6A8):c.633C>T (p.Ile211=) rs781806055 0.00003
NM_005629.4(SLC6A8):c.1080C>T (p.Phe360=) rs782576449 0.00002
NM_005629.4(SLC6A8):c.1293C>T (p.Asp431=) rs371599516 0.00002
NM_005629.4(SLC6A8):c.1395C>T (p.Gly465=) rs782302903 0.00002
NM_005629.4(SLC6A8):c.1620G>A (p.Val540=) rs781947969 0.00002
NM_005629.4(SLC6A8):c.1879A>C (p.Lys627Gln) rs201637740 0.00002
NM_005629.4(SLC6A8):c.537C>T (p.Pro179=) rs202136567 0.00002
NM_005629.4(SLC6A8):c.852C>T (p.Gly284=) rs1557044971 0.00002
NM_005629.4(SLC6A8):c.1071C>T (p.Phe357=) rs782782179 0.00001
NM_005629.4(SLC6A8):c.1319G>A (p.Arg440His) rs781925657 0.00001
NM_005629.4(SLC6A8):c.1398G>A (p.Gly466=) rs782030860 0.00001
NM_005629.4(SLC6A8):c.1404C>T (p.Tyr468=) rs782696303 0.00001
NM_005629.4(SLC6A8):c.1496-7G>A rs781814962 0.00001
NM_005629.4(SLC6A8):c.1525T>C (p.Cys509Arg) rs782000377 0.00001
NM_005629.4(SLC6A8):c.1636G>A (p.Val546Ile) rs1557045675 0.00001
NM_005629.4(SLC6A8):c.1827G>A (p.Gln609=) rs782185667 0.00001
NM_005629.4(SLC6A8):c.533C>G (p.Thr178Ser) rs199937648 0.00001
NM_005629.4(SLC6A8):c.557G>A (p.Arg186His) rs372601430 0.00001
NM_005629.4(SLC6A8):c.644+20G>A rs782635587 0.00001
NM_005629.4(SLC6A8):c.678G>A (p.Glu226=) rs782524198 0.00001
NM_005629.4(SLC6A8):c.71C>T (p.Ala24Val) rs2091436513 0.00001
NM_005629.4(SLC6A8):c.1027A>G (p.Ile343Val) rs2148363171
NM_005629.4(SLC6A8):c.1141+37G>A
NM_005629.4(SLC6A8):c.1254+18G>A
NM_005629.4(SLC6A8):c.1392+17G>A rs782120123
NM_005629.4(SLC6A8):c.1392+17dup rs781964988
NM_005629.4(SLC6A8):c.1393-3del
NM_005629.4(SLC6A8):c.1419T>C (p.Phe473=)
NM_005629.4(SLC6A8):c.1596+11G>A rs782481342
NM_005629.4(SLC6A8):c.1596+14dup
NM_005629.4(SLC6A8):c.1596+24_1597-41dup rs782797794
NM_005629.4(SLC6A8):c.1627G>C (p.Glu543Gln) rs782028471
NM_005629.4(SLC6A8):c.1692C>G (p.Phe564Leu) rs201044530
NM_005629.4(SLC6A8):c.1692C>T (p.Phe564=) rs201044530
NM_005629.4(SLC6A8):c.1767+11C>T rs782709232
NM_005629.4(SLC6A8):c.1767+8_1767+11dup rs1185206859
NM_005629.4(SLC6A8):c.1861C>T (p.Pro621Ser) rs782388832
NM_005629.4(SLC6A8):c.1901T>C (p.Val634Ala) rs1236176576
NM_005629.4(SLC6A8):c.497C>T (p.Thr166Met) rs1479462836
NM_005629.4(SLC6A8):c.617G>A (p.Arg206His)
NM_005629.4(SLC6A8):c.61C>T (p.Pro21Ser)
NM_005629.4(SLC6A8):c.645-17C>T
NM_005629.4(SLC6A8):c.74C>T (p.Pro25Leu)
NM_005629.4(SLC6A8):c.76G>C (p.Gly26Arg)
NM_005629.4(SLC6A8):c.778-3dup
NM_005629.4(SLC6A8):c.778-8C>G rs781860529
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=) rs782373793
NM_005629.4(SLC6A8):c.912+19G>A rs782518872
NM_005629.4(SLC6A8):c.913-19C>T rs782810502

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.