ClinVar Miner

List of variants in gene SLC6A8 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del) rs782433037
NM_005629.4(SLC6A8):c.1072_1095del (p.Val358_Phe365del) rs886041471
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1254+1G>A rs1557045333
NM_005629.4(SLC6A8):c.1255-2A>G rs886042005
NM_005629.4(SLC6A8):c.1260_1281del (p.Gly421fs) rs2091473920
NM_005629.4(SLC6A8):c.1262G>A (p.Gly421Asp) rs1085308011
NM_005629.4(SLC6A8):c.1290_1309del (p.Asp431fs) rs886041818
NM_005629.4(SLC6A8):c.1411C>T (p.Gln471Ter) rs1557045475
NM_005629.4(SLC6A8):c.1422_1434delinsTTGACTACTACTACAG (p.Tyr475_Ala478delinsTer) rs886041845
NM_005629.4(SLC6A8):c.1519_1543del (p.Ile507fs)
NM_005629.4(SLC6A8):c.1536del (p.Tyr513fs)
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005629.4(SLC6A8):c.1668G>A (p.Trp556Ter) rs1557045704
NM_005629.4(SLC6A8):c.249C>A (p.Tyr83Ter) rs2148358634
NM_005629.4(SLC6A8):c.263-1G>A rs1557044165
NM_005629.4(SLC6A8):c.267_268del (p.Phe90fs) rs2091448566
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.356del (p.Gly119fs) rs1603214377
NM_005629.4(SLC6A8):c.570_571del (p.Ala191fs) rs1557044442
NM_005629.4(SLC6A8):c.619C>T (p.Arg207Trp) rs1557044461
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) rs1603215223
NM_005629.4(SLC6A8):c.748_749del (p.Val250fs) rs1557044569
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs) rs1603216806

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.