ClinVar Miner

List of variants in gene SLC6A8 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113 0.00001
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.1136_1137del (p.Glu379fs) rs2522163743
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
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.1262G>A (p.Gly421Asp) rs1085308011
NM_005629.4(SLC6A8):c.1290_1309del (p.Asp431fs) rs886041818
NM_005629.4(SLC6A8):c.1340_1341del (p.Val447fs) rs2522166584
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.1456C>T (p.Gln486Ter) rs2522167571
NM_005629.4(SLC6A8):c.1519_1543del (p.Ile507fs) rs2522168496
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) rs397515558
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu) rs397515559
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.318CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.356del (p.Gly119fs) rs1603214377
NM_005629.4(SLC6A8):c.439TAC[1] (p.Tyr148del) rs2522155835
NM_005629.4(SLC6A8):c.507G>A (p.Trp169Ter) rs2522156087
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

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