ClinVar Miner

List of variants in gene SLC1A3 studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_004172.5(SLC1A3):c.*515A>C rs1049522 0.35699
NM_004172.5(SLC1A3):c.*1022G>A rs1049524 0.30550
NM_004172.5(SLC1A3):c.*33G>A rs2229894 0.25443
NM_004172.5(SLC1A3):c.1289+22C>T rs3733811 0.19119
NM_004172.5(SLC1A3):c.*1485C>T rs2269272 0.17926
NM_004172.5(SLC1A3):c.*230C>T rs61420944 0.04981
NM_004172.5(SLC1A3):c.*133A>G rs6879542 0.03052
NM_004172.5(SLC1A3):c.*1415G>A rs73089449 0.02907
NM_004172.5(SLC1A3):c.*313T>A rs6860949 0.02184
NM_004172.5(SLC1A3):c.*981G>A rs890922 0.01986
NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp) rs2032892 0.01962
NM_004172.5(SLC1A3):c.*594G>A rs10428531 0.01823
NM_004172.5(SLC1A3):c.*1656G>C rs56129258 0.01708
NM_004172.5(SLC1A3):c.*1381A>G rs1803715 0.01210
NM_004172.5(SLC1A3):c.*1081C>T rs7724801 0.01123
NM_004172.5(SLC1A3):c.*694T>C rs186603216 0.00747
NM_004172.5(SLC1A3):c.*1353A>G rs111227646 0.00597
NM_004172.5(SLC1A3):c.*1747G>A rs6886600 0.00580
NM_004172.5(SLC1A3):c.*451A>G rs141530300 0.00567
NM_004172.5(SLC1A3):c.*1050G>C rs114505475 0.00531
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.*95G>A rs143096871 0.00248
NM_004172.5(SLC1A3):c.*1206G>A rs530235885 0.00146
NM_004172.5(SLC1A3):c.*231G>A rs180855098 0.00099
NM_004172.5(SLC1A3):c.*1727A>G rs2269273 0.00085
NM_004172.5(SLC1A3):c.*465C>T rs186288512 0.00069
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.1094+12T>C rs141636019 0.00045
NM_004172.5(SLC1A3):c.*761G>A rs182371422 0.00034
NM_004172.5(SLC1A3):c.945C>T (p.Ala315=) rs117295512 0.00030
NM_004172.5(SLC1A3):c.*1605T>A rs182194574 0.00028
NM_004172.5(SLC1A3):c.68G>A (p.Arg23His) rs199774340 0.00026
NM_004172.5(SLC1A3):c.*1554T>G rs986025125 0.00023
NM_004172.5(SLC1A3):c.231A>G (p.Glu77=) rs141828644 0.00023
NM_004172.5(SLC1A3):c.*733G>A rs542557347 0.00021
NM_004172.5(SLC1A3):c.*1445A>T rs764991205 0.00017
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.985G>A (p.Ala329Thr) rs200243548 0.00013
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.1342C>T (p.Leu448=) rs201618221 0.00009
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.*1028A>G rs139308938 0.00006
NM_004172.5(SLC1A3):c.*516T>C rs971147962 0.00006
NM_004172.5(SLC1A3):c.1284A>C (p.Thr428=) rs200947079 0.00006
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln) rs138085358 0.00006
NM_004172.5(SLC1A3):c.1144G>A (p.Val382Met) rs199787096 0.00005
NM_004172.5(SLC1A3):c.*439T>A rs1742662576 0.00004
NM_004172.5(SLC1A3):c.329C>T (p.Ala110Val) rs745820508 0.00004
NM_004172.5(SLC1A3):c.-205G>A rs202216601 0.00003
NM_004172.5(SLC1A3):c.1269C>T (p.Phe423=) rs758802146 0.00003
NM_004172.5(SLC1A3):c.227G>A (p.Arg76Gln) rs148490778 0.00003
NM_004172.5(SLC1A3):c.510C>G (p.Phe170Leu) rs774420370 0.00003
NM_004172.5(SLC1A3):c.955G>A (p.Val319Met) rs753136358 0.00003
NM_004172.5(SLC1A3):c.*695G>C rs569386185 0.00002
NM_004172.5(SLC1A3):c.1397C>T (p.Thr466Met) rs763798684 0.00002
NM_004172.5(SLC1A3):c.*1160T>C rs886060548 0.00001
NM_004172.5(SLC1A3):c.*636G>A rs182529342 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.1167C>T (p.Phe389=) rs372548093 0.00001
NM_004172.5(SLC1A3):c.212A>G (p.Tyr71Cys) rs573483474 0.00001
NM_004172.5(SLC1A3):c.28A>G (p.Lys10Glu) rs754763002 0.00001
NM_004172.5(SLC1A3):c.297T>G (p.Leu99=) rs754571819 0.00001
NM_004172.5(SLC1A3):c.374T>C (p.Val125Ala) rs764799721 0.00001
NM_004172.5(SLC1A3):c.476G>A (p.Gly159Asp) rs1167788931 0.00001
NM_004172.5(SLC1A3):c.641T>C (p.Ile214Thr) rs761385978 0.00001
NM_004172.5(SLC1A3):c.770T>C (p.Ile257Thr) rs145397429 0.00001
NM_004172.5(SLC1A3):c.825C>T (p.Asn275=) rs201765665 0.00001
NM_004172.4(SLC1A3):c.*2075A>G rs554455160
NM_004172.5(SLC1A3):c.*1229A>G rs886060549
NM_004172.5(SLC1A3):c.*1533G>A rs1742717006
NM_004172.5(SLC1A3):c.*440A>G rs1742662690
NM_004172.5(SLC1A3):c.*955C>A rs1742686704
NM_004172.5(SLC1A3):c.1165T>C (p.Phe389Leu)
NM_004172.5(SLC1A3):c.1188C>T (p.Thr396=) rs1309265652
NM_004172.5(SLC1A3):c.1436G>A (p.Arg479Gln)
NM_004172.5(SLC1A3):c.1444del (p.Thr482fs)
NM_004172.5(SLC1A3):c.209C>G (p.Pro70Arg) rs767138995
NM_004172.5(SLC1A3):c.299T>C (p.Ile100Thr)
NM_004172.5(SLC1A3):c.542A>G (p.Asn181Ser) rs768557336
NM_004172.5(SLC1A3):c.556T>A (p.Cys186Ser) rs137852620
NM_004172.5(SLC1A3):c.601G>A (p.Val201Met) rs748235513
NM_004172.5(SLC1A3):c.625C>G (p.Leu209Val) rs146815724
NM_004172.5(SLC1A3):c.674C>T (p.Thr225Ile)
NM_004172.5(SLC1A3):c.830C>G (p.Ala277Gly) rs1742246958
NM_004172.5(SLC1A3):c.860+9T>C rs886060543
NM_004172.5(SLC1A3):c.869C>G (p.Pro290Arg) rs137852619
NM_004172.5(SLC1A3):c.897G>C (p.Gly299=) rs768627283
NM_004172.5(SLC1A3):c.921G>T (p.Met307Ile) rs761842691
NM_004172.5(SLC1A3):c.954C>T (p.Thr318=) rs528899789
NM_004172.5(SLC1A3):c.959C>G (p.Thr320Ser)

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