ClinVar Miner

List of variants in gene SLC6A8 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147 0.00032
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.1319G>A (p.Arg440His) rs781925657 0.00001
NM_005629.4(SLC6A8):c.611_612delinsAC (p.Ala204Asp) rs1569539288
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs) rs1603216806

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