ClinVar Miner

List of variants in gene SLC6A1 reported by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003042.4(SLC6A1):c.149G>T (p.Arg50Leu) rs766945941
NM_003042.4(SLC6A1):c.1500G>A (p.Trp500Ter) rs1698023156
NM_003042.4(SLC6A1):c.1531G>T (p.Val511Leu)
NM_003042.4(SLC6A1):c.232G>T (p.Gly78Cys) rs2124905696
NM_003042.4(SLC6A1):c.518G>A (p.Cys173Tyr)
NM_003042.4(SLC6A1):c.715-1G>C
NM_003042.4(SLC6A1):c.832A>C (p.Lys278Gln)
NM_003042.4(SLC6A1):c.836T>C (p.Leu279Pro) rs2124924511
NM_003042.4(SLC6A1):c.847G>A (p.Glu283Lys) rs1697587984
NM_003042.4(SLC6A1):c.89T>A (p.Leu30Ter) rs2124905063

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