ClinVar Miner

List of variants in gene SLC1A3 reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_004172.5(SLC1A3):c.613G>A (p.Ala205Thr) rs747247810 0.00014
NM_004172.5(SLC1A3):c.1144G>A (p.Val382Met) rs199787096 0.00005
NM_004172.5(SLC1A3):c.227G>A (p.Arg76Gln) rs148490778 0.00003
NM_004172.5(SLC1A3):c.319+3A>G rs747858400 0.00003
NM_004172.5(SLC1A3):c.940C>A (p.Leu314Ile) rs966200792 0.00003
NM_004172.5(SLC1A3):c.1259A>G (p.Glu420Gly) rs745942837 0.00002
NM_004172.5(SLC1A3):c.1408G>A (p.Ala470Thr) rs750317354 0.00002
NM_004172.5(SLC1A3):c.1450G>A (p.Val484Ile) rs549164007 0.00002
NM_004172.5(SLC1A3):c.1046T>C (p.Ile349Thr) rs760669339 0.00001
NM_004172.5(SLC1A3):c.1285A>G (p.Ile429Val) rs1391192851 0.00001
NM_004172.5(SLC1A3):c.1612A>T (p.Ser538Cys) rs752803485 0.00001
NM_004172.5(SLC1A3):c.212A>G (p.Tyr71Cys) rs573483474 0.00001
NM_004172.5(SLC1A3):c.560T>A (p.Phe187Tyr) rs1742105604 0.00001
NM_004172.5(SLC1A3):c.685G>A (p.Glu229Lys) rs974656218 0.00001
NM_004172.5(SLC1A3):c.770T>C (p.Ile257Thr) rs145397429 0.00001
NM_004172.5(SLC1A3):c.803G>A (p.Arg268Lys) rs1371499415 0.00001
NM_004172.5(SLC1A3):c.954C>A (p.Thr318=) rs528899789 0.00001
NM_004172.5(SLC1A3):c.1279A>G (p.Ile427Val)
NM_004172.5(SLC1A3):c.1435C>T (p.Arg479Trp) rs1561288563
NM_004172.5(SLC1A3):c.1453C>G (p.Leu485Val)
NM_004172.5(SLC1A3):c.206G>A (p.Arg69Gln)
NM_004172.5(SLC1A3):c.258A>G (p.Glu86=) rs965914540
NM_004172.5(SLC1A3):c.322A>G (p.Met108Val)
NM_004172.5(SLC1A3):c.363G>T (p.Met121Ile)
NM_004172.5(SLC1A3):c.459A>T (p.Glu153Asp)
NM_004172.5(SLC1A3):c.546G>A (p.Leu182=) rs1742104449
NM_004172.5(SLC1A3):c.590G>A (p.Arg197Lys) rs1554045196
NM_004172.5(SLC1A3):c.593G>A (p.Ser198Asn)
NM_004172.5(SLC1A3):c.693G>A (p.Leu231=)
NM_004172.5(SLC1A3):c.922G>A (p.Gly308Ser) rs1290342061

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