ClinVar Miner

List of variants in gene SLC6A1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.1081_1082delinsGT (p.Pro361Val)
NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp) rs1553687863
NM_003042.4(SLC6A1):c.238+1G>T rs1574891285
NM_003042.4(SLC6A1):c.595C>T (p.Gln199Ter) rs1559626646
NM_003042.4(SLC6A1):c.650C>T (p.Thr217Met) rs1396036517
NM_003042.4(SLC6A1):c.673G>C (p.Val225Leu) rs2124917929

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