ClinVar Miner

List of variants in gene SLC6A8 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 17
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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.544G>A (p.Val182Met) rs149024147 0.00032
NM_005629.4(SLC6A8):c.912+9G>A rs782694291 0.00010
NM_005629.4(SLC6A8):c.1025T>C (p.Ile342Thr) rs781962672 0.00006
NM_005629.4(SLC6A8):c.1874G>A (p.Ser625Asn) rs1181103233 0.00005
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=) rs782517934 0.00004
NM_005629.4(SLC6A8):c.1319G>A (p.Arg440His) rs781925657 0.00001
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005629.4(SLC6A8):c.611_612delinsAC (p.Ala204Asp) rs1569539288
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs) rs1603216806
NM_005629.4(SLC6A8):c.946dup (p.Ser316fs) rs1569539358

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