ClinVar Miner

List of variants in gene SLC6A8 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
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.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.1890G>C (p.Val630=) rs376385129 0.00023
NM_005629.4(SLC6A8):c.1473C>T (p.Cys491=) rs122453118 0.00013
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.1570T>A (p.Ser524Thr) rs782703394 0.00010
NM_005629.4(SLC6A8):c.1452C>G (p.Leu484=) rs376421364 0.00009
NM_005629.4(SLC6A8):c.1497A>G (p.Gly499=) rs199640501 0.00008
NM_005629.4(SLC6A8):c.126A>G (p.Thr42=) rs1557043825 0.00006
NM_005629.4(SLC6A8):c.1504C>T (p.Arg502Cys) rs782488606 0.00006
NM_005629.4(SLC6A8):c.1506C>T (p.Arg502=) rs782374700 0.00005
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr) rs782790088 0.00005
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=) rs782517934 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.1614C>T (p.Asn538=) rs369726574 0.00002
NM_005629.4(SLC6A8):c.537C>T (p.Pro179=) rs202136567 0.00002
NM_005629.4(SLC6A8):c.1431G>A (p.Ser477=) rs1060453 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.913-8T>C rs1557045039 0.00001
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del) rs782433037
NM_005629.4(SLC6A8):c.102C>T (p.Gly34=)
NM_005629.4(SLC6A8):c.1103C>T (p.Ala368Val)
NM_005629.4(SLC6A8):c.1201C>A (p.Leu401Ile)
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1218C>A (p.Phe406Leu) rs1557045310
NM_005629.4(SLC6A8):c.1255-44del
NM_005629.4(SLC6A8):c.1289_1299del (p.Leu430fs) rs2091474187
NM_005629.4(SLC6A8):c.1536del (p.Tyr513fs)
NM_005629.4(SLC6A8):c.1692C>G (p.Phe564Leu) rs201044530
NM_005629.4(SLC6A8):c.174G>A (p.Gln58=) rs1557043848
NM_005629.4(SLC6A8):c.1853C>T (p.Thr618Ile) rs1557045853
NM_005629.4(SLC6A8):c.1899T>C (p.Ser633=) rs2091483278
NM_005629.4(SLC6A8):c.267_268del (p.Phe90fs) rs2091448566
NM_005629.4(SLC6A8):c.289A>G (p.Ile97Val) rs2091448720
NM_005629.4(SLC6A8):c.457G>A (p.Ala153Thr)
NM_005629.4(SLC6A8):c.52AAG[1] (p.Lys19del) rs1603212916
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) rs1603215223
NM_005629.4(SLC6A8):c.778-8C>G rs781860529
NM_005629.4(SLC6A8):c.874T>C (p.Tyr292His) rs2148362804
NM_005629.4(SLC6A8):c.912+2T>C
NM_005629.4(SLC6A8):c.913G>A (p.Val305Met) rs1603216798
NM_005629.4(SLC6A8):c.916T>C (p.Trp306Arg) rs2091467425
NM_005629.4(SLC6A8):c.918_919del (p.Trp306fs) rs2091467454

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