ClinVar Miner

List of variants in gene SLC1A3 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp) rs2032892 0.01962
NM_004172.5(SLC1A3):c.342G>A (p.Lys114=) rs34809305 0.00501
NM_004172.5(SLC1A3):c.792G>A (p.Gly264=) rs139659178 0.00387
NM_004172.5(SLC1A3):c.69T>A (p.Arg23=) rs140080134 0.00342
NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=) rs150357327 0.00272
NM_004172.5(SLC1A3):c.195A>T (p.Gly65=) rs148896855 0.00266
NM_004172.5(SLC1A3):c.1074C>T (p.Thr358=) rs147973032 0.00068
NM_004172.5(SLC1A3):c.320-7C>T rs200867287 0.00063
NM_004172.5(SLC1A3):c.15T>C (p.Asn5=) rs143791614 0.00061
NM_004172.5(SLC1A3):c.1154G>A (p.Arg385His) rs115702388 0.00058
NM_004172.5(SLC1A3):c.68G>A (p.Arg23His) rs199774340 0.00026
NM_004172.5(SLC1A3):c.1425-8G>C rs202233020 0.00016
NM_004172.5(SLC1A3):c.676C>G (p.Arg226Gly) rs201069745 0.00016
NM_004172.5(SLC1A3):c.182-8T>C rs758803628 0.00015
NM_004172.5(SLC1A3):c.291A>G (p.Leu97=) rs549983023 0.00014
NM_004172.5(SLC1A3):c.613G>A (p.Ala205Thr) rs747247810 0.00014
NM_004172.5(SLC1A3):c.985G>A (p.Ala329Thr) rs200243548 0.00013
NM_004172.5(SLC1A3):c.796G>A (p.Ala266Thr) rs146929198 0.00012
NM_004172.5(SLC1A3):c.279G>A (p.Gln93=) rs375527461 0.00011
NM_004172.5(SLC1A3):c.841C>T (p.Leu281=) rs780281944 0.00010
NM_004172.5(SLC1A3):c.36G>A (p.Gly12=) rs752951426 0.00006
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.1069A>G (p.Ile357Val) rs532925070 0.00002
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.1434C>G (p.Leu478=) rs778865549 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.1065A>T (p.Ala355=) rs765536752
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.168C>T (p.Thr56=) rs751614772
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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