ClinVar Miner

List of variants in gene SLC6A8 reported by Ambry Genetics

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Gene type:
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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
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.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.780C>T (p.Ile260=) rs148232368 0.00177
NM_005629.4(SLC6A8):c.603C>T (p.Asp201=) rs143019641 0.00073
NM_005629.4(SLC6A8):c.777+4C>T rs201581661 0.00063
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.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.645-6C>T rs377181706 0.00016
NM_005629.4(SLC6A8):c.1533C>T (p.Ile511=) rs782114947 0.00011
NM_005629.4(SLC6A8):c.87G>C (p.Gly29=) rs782373793 0.00011
NM_005629.4(SLC6A8):c.1570T>A (p.Ser524Thr) rs782703394 0.00010
NM_005629.4(SLC6A8):c.1452C>G (p.Leu484=) rs376421364 0.00009
NM_005629.4(SLC6A8):c.856C>T (p.Leu286=) rs782005985 0.00009
NM_005629.4(SLC6A8):c.1038C>T (p.Leu346=) rs369716393 0.00006
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=) rs782244505 0.00005
NM_005629.4(SLC6A8):c.498G>A (p.Thr166=) rs201260657 0.00005
NM_005629.4(SLC6A8):c.1632G>A (p.Pro544=) rs782393373 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.1869C>T (p.Ser623=) rs782748657 0.00003
NM_005629.4(SLC6A8):c.1683C>A (p.Gly561=) rs1286428662 0.00002
NM_005629.4(SLC6A8):c.421G>A (p.Val141Ile) rs1557044413 0.00002
NM_005629.4(SLC6A8):c.1071C>T (p.Phe357=) rs782782179 0.00001
NM_005629.4(SLC6A8):c.1290C>T (p.Leu430=) rs782667574 0.00001
NM_005629.4(SLC6A8):c.1319G>A (p.Arg440His) rs781925657 0.00001
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn) rs1261794545 0.00001
NM_005629.4(SLC6A8):c.708C>T (p.Thr236=) rs782489930 0.00001
NM_005629.4(SLC6A8):c.786C>T (p.Tyr262=) rs1557044940 0.00001
NM_005629.4(SLC6A8):c.823C>T (p.Leu275=) rs1557044951 0.00001
NM_005629.4(SLC6A8):c.89C>T (p.Ala30Val) rs782598816 0.00001
NM_005629.4(SLC6A8):c.1016+2T>C rs1557045066
NM_005629.4(SLC6A8):c.1127A>C (p.Lys376Thr)
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
NM_005629.4(SLC6A8):c.113T>C (p.Val38Ala)
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005629.4(SLC6A8):c.124A>G (p.Thr42Ala)
NM_005629.4(SLC6A8):c.1297C>T (p.Leu433Phe) rs1569539421
NM_005629.4(SLC6A8):c.153G>A (p.Pro51=) rs782351119
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005629.4(SLC6A8):c.1654G>A (p.Val552Met)
NM_005629.4(SLC6A8):c.1720C>T (p.Leu574=) rs1569539472
NM_005629.4(SLC6A8):c.1763C>T (p.Ala588Val)
NM_005629.4(SLC6A8):c.1861C>T (p.Pro621Ser) rs782388832
NM_005629.4(SLC6A8):c.1887C>T (p.Val629=) rs1485660118
NM_005629.4(SLC6A8):c.1906T>G (p.Ter636Gly)
NM_005629.4(SLC6A8):c.190T>C (p.Ser64Pro) rs1557043854
NM_005629.4(SLC6A8):c.318C>T (p.Phe106=) rs1569539245
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.354C>G (p.Ala118=) rs1557044183
NM_005629.4(SLC6A8):c.370T>C (p.Trp124Arg)
NM_005629.4(SLC6A8):c.611_612delinsAC (p.Ala204Asp) rs1569539288
NM_005629.4(SLC6A8):c.672A>G (p.Gly224=) rs1569539299
NM_005629.4(SLC6A8):c.803C>A (p.Pro268His) rs2091465921
NM_005629.4(SLC6A8):c.874T>C (p.Tyr292His) rs2148362804
NM_005629.4(SLC6A8):c.94G>A (p.Ala32Thr)
NM_005629.4(SLC6A8):c.981G>A (p.Leu327=) rs1569539360

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