ClinVar Miner

List of variants in gene SLC6A8 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val) rs145438966 0.00024
NM_005629.4(SLC6A8):c.1025T>C (p.Ile342Thr) rs781962672 0.00006
NM_005629.4(SLC6A8):c.1885G>A (p.Val629Ile) rs781899045 0.00004
NM_005629.4(SLC6A8):c.144C>T (p.Ala48=) rs782232933 0.00002
NM_005629.4(SLC6A8):c.833G>A (p.Arg278His) rs782802482 0.00002
NM_005629.4(SLC6A8):c.913-8T>C rs1557045039 0.00001
NM_005629.4(SLC6A8):c.101_102insGC (p.Asp35fs) rs2148358474
NM_005629.4(SLC6A8):c.115G>A (p.Gly39Ser)
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1254+1G>A rs1557045333
NM_005629.4(SLC6A8):c.1539C>G (p.Tyr513Ter)
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) rs397515558
NM_005629.4(SLC6A8):c.645-19A>G rs2148361615
NM_005629.4(SLC6A8):c.82del (p.Asp28fs)
NM_005629.4(SLC6A8):c.912+6G>C
NM_005629.4(SLC6A8):c.97_98del (p.Lys33fs) rs2148358457

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