ClinVar Miner

List of variants in gene SLC1A3 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_004172.5(SLC1A3):c.792G>A (p.Gly264=) rs139659178 0.00383
NM_004172.5(SLC1A3):c.*174del rs538321546 0.00368
NM_004172.5(SLC1A3):c.69T>A (p.Arg23=) rs140080134 0.00318
NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=) rs150357327 0.00272
NM_004172.5(SLC1A3):c.*1206G>A rs530235885 0.00146
NM_004172.5(SLC1A3):c.1074C>T (p.Thr358=) rs147973032 0.00068
NM_004172.5(SLC1A3):c.15T>C (p.Asn5=) rs143791614 0.00063
NM_004172.5(SLC1A3):c.320-7C>T rs200867287 0.00063
NM_004172.5(SLC1A3):c.648T>C (p.Asn216=) rs139342707 0.00045
NM_004172.5(SLC1A3):c.*761G>A rs182371422 0.00034
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.279G>A (p.Gln93=) rs375527461 0.00011
NM_004172.5(SLC1A3):c.1284A>C (p.Thr428=) rs200947079 0.00007
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln) rs138085358 0.00007
NM_004172.5(SLC1A3):c.36G>A (p.Gly12=) rs752951426 0.00006
NM_004172.5(SLC1A3):c.188T>C (p.Ile63Thr) rs138559945 0.00004
NM_004172.5(SLC1A3):c.488G>A (p.Arg163Gln) rs780020363 0.00003
NM_004172.5(SLC1A3):c.510C>G (p.Phe170Leu) rs774420370 0.00003
NM_004172.5(SLC1A3):c.1176C>T (p.Pro392=) rs530745234 0.00002
NM_004172.5(SLC1A3):c.1397C>T (p.Thr466Met) rs763798684 0.00002
NM_004172.5(SLC1A3):c.212A>G (p.Tyr71Cys) rs573483474 0.00002
NM_004172.5(SLC1A3):c.28A>G (p.Lys10Glu) rs754763002 0.00002
NM_004172.5(SLC1A3):c.1025G>A (p.Arg342Gln) rs780762087 0.00001
NM_004172.5(SLC1A3):c.1046T>C (p.Ile349Thr) rs760669339 0.00001
NM_004172.5(SLC1A3):c.1526T>C (p.Met509Thr) rs771678103 0.00001
NM_004172.5(SLC1A3):c.993C>T (p.Ile331=) rs768494940 0.00001
NM_004172.5(SLC1A3):c.109A>C (p.Thr37Pro) rs2477871787
NM_004172.5(SLC1A3):c.1153C>T (p.Arg385Cys)
NM_004172.5(SLC1A3):c.1157T>C (p.Val386Ala) rs2478163033
NM_004172.5(SLC1A3):c.1505T>C (p.Leu502Pro) rs2478191848
NM_004172.5(SLC1A3):c.182-9_182-8dup
NM_004172.5(SLC1A3):c.625C>G (p.Leu209Val) rs146815724
NM_004172.5(SLC1A3):c.746T>A (p.Phe249Tyr)
NM_004172.5(SLC1A3):c.760G>A (p.Gly254Ser)
NM_004172.5(SLC1A3):c.861-222_861-221dup rs2478154852
NM_004172.5(SLC1A3):c.870C>T (p.Pro290=)
NM_004172.5(SLC1A3):c.904G>T (p.Val302Leu) rs1742354614
NM_004172.5(SLC1A3):c.994G>C (p.Val332Leu) rs774323789

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