ClinVar Miner

List of variants in gene SLC6A17 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001010898.4(SLC6A17):c.525G>A (p.Pro175=) rs142901935 0.00138
NM_001010898.4(SLC6A17):c.286+10A>G rs187996451 0.00119
NM_001010898.4(SLC6A17):c.1174G>A (p.Val392Ile) rs114452357 0.00117
NM_001010898.4(SLC6A17):c.696C>T (p.Leu232=) rs373414163 0.00026
NM_001010898.4(SLC6A17):c.1723G>A (p.Val575Met) rs143189177 0.00022
NM_001010898.4(SLC6A17):c.1287C>T (p.Asp429=) rs151152223 0.00016
NM_001010898.4(SLC6A17):c.1105G>A (p.Glu369Lys) rs149884117 0.00010
NM_001010898.4(SLC6A17):c.824G>A (p.Arg275Gln) rs147200498 0.00007
NM_001010898.4(SLC6A17):c.1941C>G (p.Gly647=) rs376648268 0.00001
NM_001010898.4(SLC6A17):c.489G>C (p.Trp163Cys) rs1054854634 0.00001
NM_001010898.4(SLC6A17):c.896G>A (p.Arg299Gln) rs750138241 0.00001
NM_001010898.4(SLC6A17):c.1806C>T (p.Ile602=) rs201061830
NM_001010898.4(SLC6A17):c.2018C>A (p.Thr673Asn) rs2100954694
NM_001010898.4(SLC6A17):c.303C>A (p.Pro101=) rs746434391

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