ClinVar Miner

List of variants in gene SLC1A3 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_004172.5(SLC1A3):c.*174del rs538321546 0.00368
NM_004172.5(SLC1A3):c.*1206G>A rs530235885 0.00146
NM_004172.5(SLC1A3):c.*761G>A rs182371422 0.00034
NM_004172.5(SLC1A3):c.*1605T>A rs182194574 0.00026
NM_004172.5(SLC1A3):c.*1554T>G rs986025125 0.00023
NM_004172.5(SLC1A3):c.*733G>A rs542557347 0.00021
NM_004172.5(SLC1A3):c.985G>A (p.Ala329Thr) rs200243548 0.00017
NM_004172.5(SLC1A3):c.*1445A>T rs764991205 0.00015
NM_004172.5(SLC1A3):c.1609G>A (p.Asp537Asn) rs1045623880 0.00014
NM_004172.5(SLC1A3):c.871G>A (p.Val291Met) rs143438887 0.00014
NM_004172.5(SLC1A3):c.796G>A (p.Ala266Thr) rs146929198 0.00012
NM_004172.5(SLC1A3):c.*843C>T rs111315626 0.00011
NM_004172.5(SLC1A3):c.279G>A (p.Gln93=) rs375527461 0.00011
NM_004172.5(SLC1A3):c.613G>A (p.Ala205Thr) rs747247810 0.00011
NM_004172.5(SLC1A3):c.1144G>A (p.Val382Met) rs199787096 0.00008
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.650T>C (p.Val217Ala) rs772789166 0.00007
NM_004172.5(SLC1A3):c.79C>T (p.Leu27Phe) rs146939026 0.00007
NM_004172.5(SLC1A3):c.*516T>C rs971147962 0.00006
NM_004172.5(SLC1A3):c.1589A>G (p.Asn530Ser) rs753745170 0.00004
NM_004172.5(SLC1A3):c.188T>C (p.Ile63Thr) rs138559945 0.00004
NM_004172.5(SLC1A3):c.329C>T (p.Ala110Val) rs745820508 0.00004
NM_004172.5(SLC1A3):c.*439T>A rs1742662576 0.00003
NM_004172.5(SLC1A3):c.-205G>A rs202216601 0.00003
NM_004172.5(SLC1A3):c.1177G>A (p.Val393Ile) rs549250283 0.00003
NM_004172.5(SLC1A3):c.206G>A (p.Arg69Gln) rs368269219 0.00003
NM_004172.5(SLC1A3):c.227G>A (p.Arg76Gln) rs148490778 0.00003
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.858G>A (p.Met286Ile) rs769171398 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.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.459A>T (p.Glu153Asp) rs368401930 0.00002
NM_004172.5(SLC1A3):c.619G>A (p.Glu207Lys) rs541689509 0.00002
NM_004172.5(SLC1A3):c.674C>T (p.Thr225Ile) rs758446635 0.00002
NM_004172.5(SLC1A3):c.685G>A (p.Glu229Lys) rs974656218 0.00002
NM_004172.5(SLC1A3):c.955G>A (p.Val319Met) rs753136358 0.00002
NM_004172.5(SLC1A3):c.*1160T>C rs886060548 0.00001
NM_004172.5(SLC1A3):c.-20C>A rs759949496 0.00001
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.1111A>C (p.Ile371Leu) rs1742390566 0.00001
NM_004172.5(SLC1A3):c.1165T>C (p.Phe389Leu) rs762409451 0.00001
NM_004172.5(SLC1A3):c.1167C>T (p.Phe389=) rs372548093 0.00001
NM_004172.5(SLC1A3):c.1269C>T (p.Phe423=) rs758802146 0.00001
NM_004172.5(SLC1A3):c.1279A>G (p.Ile427Val) rs1210946703 0.00001
NM_004172.5(SLC1A3):c.1285A>G (p.Ile429Val) rs1391192851 0.00001
NM_004172.5(SLC1A3):c.1289+5A>G rs528412871 0.00001
NM_004172.5(SLC1A3):c.1408G>A (p.Ala470Thr) rs750317354 0.00001
NM_004172.5(SLC1A3):c.1450G>A (p.Val484Ile) rs549164007 0.00001
NM_004172.5(SLC1A3):c.1453C>G (p.Leu485Val) rs1742635005 0.00001
NM_004172.5(SLC1A3):c.1474G>A (p.Gly492Arg) rs1334091499 0.00001
NM_004172.5(SLC1A3):c.1526T>C (p.Met509Thr) rs771678103 0.00001
NM_004172.5(SLC1A3):c.155T>C (p.Leu52Pro) rs138011127 0.00001
NM_004172.5(SLC1A3):c.1612A>T (p.Ser538Cys) rs752803485 0.00001
NM_004172.5(SLC1A3):c.226C>T (p.Arg76Trp) rs951918420 0.00001
NM_004172.5(SLC1A3):c.297T>G (p.Leu99=) rs754571819 0.00001
NM_004172.5(SLC1A3):c.319+3A>G rs747858400 0.00001
NM_004172.5(SLC1A3):c.374T>C (p.Val125Ala) rs764799721 0.00001
NM_004172.5(SLC1A3):c.397A>G (p.Ile133Val) rs752276609 0.00001
NM_004172.5(SLC1A3):c.398T>C (p.Ile133Thr) rs149249424 0.00001
NM_004172.5(SLC1A3):c.476G>A (p.Gly159Asp) rs1167788931 0.00001
NM_004172.5(SLC1A3):c.560T>A (p.Phe187Tyr) rs1742105604 0.00001
NM_004172.5(SLC1A3):c.641T>C (p.Ile214Thr) rs761385978 0.00001
NM_004172.5(SLC1A3):c.647A>G (p.Asn216Ser) rs1182413411 0.00001
NM_004172.5(SLC1A3):c.687G>T (p.Glu229Asp) rs919672236 0.00001
NM_004172.5(SLC1A3):c.70A>G (p.Lys24Glu) rs2477871375 0.00001
NM_004172.5(SLC1A3):c.745T>G (p.Phe249Val) rs547834086 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.825C>T (p.Asn275=) rs201765665 0.00001
NM_004172.5(SLC1A3):c.934G>A (p.Gly312Arg) rs1131691717 0.00001
NM_004172.5(SLC1A3):c.954C>A (p.Thr318=) rs528899789 0.00001
NM_004172.5(SLC1A3):c.994G>A (p.Val332Ile) rs774323789 0.00001
GRCh37/hg19 5p13.2(chr5:36571604-36624250)x3
NM_004172.4(SLC1A3):c.-280C>T rs886060542
NM_004172.5(SLC1A3):c.*1229A>G rs886060549
NM_004172.5(SLC1A3):c.*1533G>A rs1742717006
NM_004172.5(SLC1A3):c.*313dup rs886060544
NM_004172.5(SLC1A3):c.*440A>G rs1742662690
NM_004172.5(SLC1A3):c.*617dup rs886060546
NM_004172.5(SLC1A3):c.*955C>A rs1742686704
NM_004172.5(SLC1A3):c.1024C>T (p.Arg342Trp)
NM_004172.5(SLC1A3):c.1027A>G (p.Lys343Glu) rs2478157797
NM_004172.5(SLC1A3):c.1032C>A (p.Asn344Lys) rs926634917
NM_004172.5(SLC1A3):c.106A>G (p.Ile36Val)
NM_004172.5(SLC1A3):c.109A>C (p.Thr37Pro) rs2477871787
NM_004172.5(SLC1A3):c.1153C>T (p.Arg385Cys)
NM_004172.5(SLC1A3):c.1156G>A (p.Val386Ile)
NM_004172.5(SLC1A3):c.1157T>C (p.Val386Ala) rs2478163033
NM_004172.5(SLC1A3):c.1188C>T (p.Thr396=) rs1309265652
NM_004172.5(SLC1A3):c.1289+1G>A rs1742399738
NM_004172.5(SLC1A3):c.1290-15T>C rs2478179875
NM_004172.5(SLC1A3):c.1301C>T (p.Thr434Ile) rs1742538697
NM_004172.5(SLC1A3):c.139C>G (p.Arg47Gly) rs2477871926
NM_004172.5(SLC1A3):c.140G>A (p.Arg47Gln)
NM_004172.5(SLC1A3):c.1435C>T (p.Arg479Trp) rs1561288563
NM_004172.5(SLC1A3):c.1436G>A (p.Arg479Gln) rs2478191080
NM_004172.5(SLC1A3):c.1444del (p.Thr482fs) rs2478191117
NM_004172.5(SLC1A3):c.1460A>C (p.Asp487Ala) rs2478191329
NM_004172.5(SLC1A3):c.1505T>C (p.Leu502Pro) rs2478191848
NM_004172.5(SLC1A3):c.1511A>G (p.Asn504Ser) rs768168646
NM_004172.5(SLC1A3):c.1511_1517del (p.Asn504fs) rs2111991276
NM_004172.5(SLC1A3):c.1516G>C (p.Asp506His)
NM_004172.5(SLC1A3):c.1519G>A (p.Val507Ile) rs2478191950
NM_004172.5(SLC1A3):c.1623G>C (p.Lys541Asn) rs1162690889
NM_004172.5(SLC1A3):c.176T>C (p.Ile59Thr)
NM_004172.5(SLC1A3):c.190C>T (p.Leu64Phe) rs779437172
NM_004172.5(SLC1A3):c.202del (p.Leu68fs) rs2477947332
NM_004172.5(SLC1A3):c.209C>G (p.Pro70Arg) rs767138995
NM_004172.5(SLC1A3):c.209C>T (p.Pro70Leu)
NM_004172.5(SLC1A3):c.22G>C (p.Glu8Gln) rs757310275
NM_004172.5(SLC1A3):c.251C>T (p.Pro84Leu) rs2477947993
NM_004172.5(SLC1A3):c.258A>G (p.Glu86=) rs965914540
NM_004172.5(SLC1A3):c.299T>C (p.Ile100Thr) rs2477948234
NM_004172.5(SLC1A3):c.310C>G (p.Leu104Val) rs1208176336
NM_004172.5(SLC1A3):c.322A>G (p.Met108Val) rs934526662
NM_004172.5(SLC1A3):c.349G>A (p.Gly117Arg) rs2478113019
NM_004172.5(SLC1A3):c.35G>C (p.Gly12Ala)
NM_004172.5(SLC1A3):c.363G>T (p.Met121Ile) rs762075519
NM_004172.5(SLC1A3):c.370G>A (p.Val124Ile) rs1741974510
NM_004172.5(SLC1A3):c.389C>G (p.Thr130Ser) rs2478113408
NM_004172.5(SLC1A3):c.410T>C (p.Ile137Thr) rs2111929973
NM_004172.5(SLC1A3):c.433A>T (p.Ile145Phe) rs2478113882
NM_004172.5(SLC1A3):c.436C>T (p.His146Tyr) rs2478113936
NM_004172.5(SLC1A3):c.449G>A (p.Gly150Asp) rs1290549207
NM_004172.5(SLC1A3):c.466C>A (p.His156Asn)
NM_004172.5(SLC1A3):c.467A>G (p.His156Arg) rs2478114275
NM_004172.5(SLC1A3):c.470G>A (p.Arg157Lys)
NM_004172.5(SLC1A3):c.482T>C (p.Ile161Thr)
NM_004172.5(SLC1A3):c.484G>T (p.Val162Leu)
NM_004172.5(SLC1A3):c.487C>T (p.Arg163Ter) rs2111930393
NM_004172.5(SLC1A3):c.48G>C (p.Glu16Asp) rs1168358927
NM_004172.5(SLC1A3):c.497C>T (p.Ala166Val)
NM_004172.5(SLC1A3):c.532T>C (p.Phe178Leu) rs2478130503
NM_004172.5(SLC1A3):c.542A>G (p.Asn181Ser) rs768557336
NM_004172.5(SLC1A3):c.546G>A (p.Leu182=) rs1742104449
NM_004172.5(SLC1A3):c.559T>C (p.Phe187Leu) rs2478130906
NM_004172.5(SLC1A3):c.580T>C (p.Tyr194His) rs2478143563
NM_004172.5(SLC1A3):c.590G>A (p.Arg197Lys) rs1554045196
NM_004172.5(SLC1A3):c.593G>A (p.Ser198Asn) rs2478143723
NM_004172.5(SLC1A3):c.601G>A (p.Val201Met) rs748235513
NM_004172.5(SLC1A3):c.623C>T (p.Thr208Met)
NM_004172.5(SLC1A3):c.625C>G (p.Leu209Val) rs146815724
NM_004172.5(SLC1A3):c.664G>T (p.Glu222Ter) rs1382977672
NM_004172.5(SLC1A3):c.667A>G (p.Thr223Ala)
NM_004172.5(SLC1A3):c.693G>A (p.Leu231=) rs2478144773
NM_004172.5(SLC1A3):c.73C>T (p.Arg25Cys) rs1264331837
NM_004172.5(SLC1A3):c.746T>A (p.Phe249Tyr)
NM_004172.5(SLC1A3):c.74G>T (p.Arg25Leu) rs769225350
NM_004172.5(SLC1A3):c.770_786del (p.Ile257fs) rs2478145334
NM_004172.5(SLC1A3):c.775A>C (p.Asn259His) rs907632540
NM_004172.5(SLC1A3):c.780G>A (p.Met260Ile)
NM_004172.5(SLC1A3):c.781A>C (p.Lys261Gln)
NM_004172.5(SLC1A3):c.830C>G (p.Ala277Gly) rs1742246958
NM_004172.5(SLC1A3):c.84G>T (p.Leu28Phe) rs2477871548
NM_004172.5(SLC1A3):c.85G>T (p.Ala29Ser) rs2477871557
NM_004172.5(SLC1A3):c.860+9T>C rs886060543
NM_004172.5(SLC1A3):c.861-222_861-221dup rs2478154852
NM_004172.5(SLC1A3):c.875G>A (p.Gly292Asp)
NM_004172.5(SLC1A3):c.886C>G (p.Leu296Val) rs1420650225
NM_004172.5(SLC1A3):c.897G>C (p.Gly299=) rs768627283
NM_004172.5(SLC1A3):c.904G>T (p.Val302Leu) rs1742354614
NM_004172.5(SLC1A3):c.921G>T (p.Met307Ile) rs761842691
NM_004172.5(SLC1A3):c.922G>A (p.Gly308Ser) rs1290342061
NM_004172.5(SLC1A3):c.922G>C (p.Gly308Arg) rs1290342061
NM_004172.5(SLC1A3):c.946A>C (p.Met316Leu)
NM_004172.5(SLC1A3):c.94A>C (p.Lys32Gln) rs2477871633
NM_004172.5(SLC1A3):c.950A>C (p.Tyr317Ser)
NM_004172.5(SLC1A3):c.952A>C (p.Thr318Pro)
NM_004172.5(SLC1A3):c.959C>G (p.Thr320Ser)
NM_004172.5(SLC1A3):c.983A>G (p.His328Arg)
NM_004172.5(SLC1A3):c.994G>C (p.Val332Leu) rs774323789

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