List of variants in gene SLC6A17 reported as uncertain significance for inborn disorder of amino acid metabolism

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001010898.4(SLC6A17):c.286+10A>G	rs187996451	0.00119
NM_001010898.4(SLC6A17):c.1723G>A (p.Val575Met)	rs143189177	0.00022
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.754-4G>A	rs773243821	0.00004
NM_001010898.4(SLC6A17):c.1957G>A (p.Val653Met)	rs757150136	0.00003
NM_001010898.4(SLC6A17):c.29G>A (p.Arg10His)	rs146348475	0.00001
NM_001010898.4(SLC6A17):c.1129T>C (p.Tyr377His)
NM_001010898.4(SLC6A17):c.351G>T (p.Glu117Asp)
NM_001010898.4(SLC6A17):c.374G>A (p.Arg125His)
NM_001010898.4(SLC6A17):c.852G>A (p.Met284Ile)	rs1188854712
NM_001010898.4(SLC6A17):c.895C>T (p.Arg299Trp)

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