ClinVar Miner

List of variants in gene SLC6A17 studied for amino acid metabolism disease

Included ClinVar conditions (409):
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001010898.4(SLC6A17):c.168T>C (p.Asp56=) rs7527375 0.45081
NM_001010898.4(SLC6A17):c.169G>A (p.Ala57Thr) rs12737742 0.33411
NM_001010898.4(SLC6A17):c.2036A>G (p.Lys679Arg) rs41313405 0.00603
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.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.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.1581G>A (p.Ser527=)
NM_001010898.4(SLC6A17):c.1816-10C>T
NM_001010898.4(SLC6A17):c.1898C>G (p.Pro633Arg) rs375380880
NM_001010898.4(SLC6A17):c.351G>T (p.Glu117Asp)
NM_001010898.4(SLC6A17):c.374G>A (p.Arg125His)
NM_001010898.4(SLC6A17):c.484G>A (p.Gly162Arg) rs775085213
NM_001010898.4(SLC6A17):c.852G>A (p.Met284Ile) rs1188854712
NM_001010898.4(SLC6A17):c.895C>T (p.Arg299Trp)

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