ClinVar Miner

List of variants in gene GAMT studied for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 422
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.460-31G>A rs55776826 0.14411
NM_000156.6(GAMT):c.*11C>T rs149268921 0.01866
NM_000156.6(GAMT):c.570+165G>A rs74253480 0.00981
NM_000156.6(GAMT):c.*89C>A rs558767159 0.00362
NM_000156.6(GAMT):c.392-7C>T rs192416474 0.00144
NM_000156.6(GAMT):c.348G>A (p.Leu116=) rs117884619 0.00133
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199 0.00077
NM_000156.6(GAMT):c.*239C>T rs550282678 0.00046
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) rs150338273 0.00036
NM_000156.6(GAMT):c.570+161T>A rs368296913 0.00035
NM_000156.6(GAMT):c.182-18C>T rs376709081 0.00033
NM_000156.6(GAMT):c.279C>T (p.Asp93=) rs144630886 0.00028
NM_000156.6(GAMT):c.570+4C>T rs199967562 0.00026
NM_000156.6(GAMT):c.328-10C>T rs371511930 0.00019
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_000156.6(GAMT):c.575C>T (p.Thr192Met) rs141066224 0.00013
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala) rs201029006 0.00011
NM_000156.6(GAMT):c.242C>T (p.Ala81Val) rs751099274 0.00009
NM_000156.6(GAMT):c.258T>C (p.His86=) rs367871393 0.00009
NM_000156.6(GAMT):c.270G>A (p.Glu90=) rs138754049 0.00009
NM_000156.6(GAMT):c.587C>T (p.Ala196Val) rs565109128 0.00009
NM_000156.6(GAMT):c.662G>A (p.Arg221His) rs766553422 0.00009
NM_000156.6(GAMT):c.201G>A (p.Val67=) rs745986528 0.00007
NM_000156.6(GAMT):c.314G>A (p.Arg105Gln) rs148838075 0.00007
NM_000156.6(GAMT):c.396C>A (p.Ile132=) rs200500835 0.00007
NM_000156.6(GAMT):c.313C>T (p.Arg105Trp) rs757909053 0.00006
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799 0.00006
NM_000156.6(GAMT):c.331A>C (p.Ile111Leu) rs201833033 0.00005
NM_000156.6(GAMT):c.511C>G (p.Leu171Val) rs770110177 0.00005
NM_000156.6(GAMT):c.651G>A (p.Pro217=) rs745327521 0.00005
NM_000156.6(GAMT):c.311C>T (p.Pro104Leu) rs368864187 0.00004
NM_000156.6(GAMT):c.378C>T (p.Asp126=) rs538244028 0.00004
NM_000156.6(GAMT):c.402C>T (p.Tyr134=) rs556829801 0.00004
NM_000156.6(GAMT):c.419C>T (p.Ser140Leu) rs747656257 0.00004
NM_000156.6(GAMT):c.585C>T (p.Pro195=) rs371024035 0.00004
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn) rs753228876 0.00004
NM_000156.6(GAMT):c.*116C>T rs902990738 0.00003
NM_000156.6(GAMT):c.*292C>T rs908073212 0.00003
NM_000156.6(GAMT):c.181+20C>G rs747307760 0.00003
NM_000156.6(GAMT):c.211A>G (p.Met71Val) rs372027428 0.00003
NM_000156.6(GAMT):c.292C>T (p.Arg98Trp) rs765070826 0.00003
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp) rs552210450 0.00003
NM_000156.6(GAMT):c.328-19T>C rs879927012 0.00003
NM_000156.6(GAMT):c.460-7T>G rs1200384623 0.00003
NM_000156.6(GAMT):c.471T>G (p.Phe157Leu) rs372260609 0.00003
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter) rs1057524499 0.00003
NM_000156.6(GAMT):c.509A>C (p.Asn170Thr) rs202199674 0.00003
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter) rs370421531 0.00003
NM_000156.6(GAMT):c.600C>T (p.Ala200=) rs200679529 0.00003
NM_000156.6(GAMT):c.608G>A (p.Arg203Gln) rs376499506 0.00003
NM_000156.6(GAMT):c.622C>T (p.Arg208Cys) rs778279369 0.00003
NM_000156.6(GAMT):c.623G>A (p.Arg208His) rs767887772 0.00003
NM_000156.6(GAMT):c.650C>T (p.Pro217Leu) rs139890971 0.00003
NM_000156.6(GAMT):c.669C>T (p.Tyr223=) rs762954251 0.00003
NM_000156.6(GAMT):c.187C>T (p.Arg63Trp) rs777102623 0.00002
NM_000156.6(GAMT):c.189G>C (p.Arg63=) rs568392459 0.00002
NM_000156.6(GAMT):c.217A>G (p.Ile73Val) rs771107085 0.00002
NM_000156.6(GAMT):c.219C>T (p.Ile73=) rs1417220310 0.00002
NM_000156.6(GAMT):c.220G>A (p.Ala74Thr) rs749284008 0.00002
NM_000156.6(GAMT):c.225G>A (p.Ala75=) rs202151546 0.00002
NM_000156.6(GAMT):c.328G>T (p.Val110Phe) rs753198836 0.00002
NM_000156.6(GAMT):c.344G>A (p.Gly115Asp) rs750625814 0.00002
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser) rs570476209 0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn) rs774144200 0.00002
NM_000156.6(GAMT):c.415C>T (p.Leu139Phe) rs1300612017 0.00002
NM_000156.6(GAMT):c.472C>T (p.Arg158Cys) rs758217156 0.00002
NM_000156.6(GAMT):c.486G>A (p.Pro162=) rs368650653 0.00002
NM_000156.6(GAMT):c.493G>A (p.Val165Ile) rs1050914 0.00002
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) rs121909272 0.00002
NM_000156.6(GAMT):c.571-7C>T rs767793408 0.00002
NM_000156.6(GAMT):c.576G>A (p.Thr192=) rs771099195 0.00002
NM_000156.6(GAMT):c.642G>A (p.Leu214=) rs746723263 0.00002
NM_000156.6(GAMT):c.661C>T (p.Arg221Cys) rs751894166 0.00002
NM_000156.6(GAMT):c.*136C>A rs566649324 0.00001
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) rs77168423 0.00001
NM_000156.6(GAMT):c.198G>A (p.Glu66=) rs772132045 0.00001
NM_000156.6(GAMT):c.207T>C (p.Phe69=) rs1334995399 0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) rs1441030187 0.00001
NM_000156.6(GAMT):c.226T>C (p.Ser76Pro) rs1340590108 0.00001
NM_000156.6(GAMT):c.228A>T (p.Ser76=) rs752364729 0.00001
NM_000156.6(GAMT):c.229A>G (p.Lys77Glu) rs780909879 0.00001
NM_000156.6(GAMT):c.267C>T (p.Ile89=) rs1457175740 0.00001
NM_000156.6(GAMT):c.282C>T (p.Gly94=) rs771191011 0.00001
NM_000156.6(GAMT):c.283G>A (p.Val95Ile) rs140778208 0.00001
NM_000156.6(GAMT):c.289C>T (p.Gln97Ter) rs1215576338 0.00001
NM_000156.6(GAMT):c.293G>A (p.Arg98Gln) rs200052696 0.00001
NM_000156.6(GAMT):c.312A>G (p.Pro104=) rs779679242 0.00001
NM_000156.6(GAMT):c.317A>C (p.Gln106Pro) rs145817990 0.00001
NM_000156.6(GAMT):c.324C>A (p.His108Gln) rs1289804170 0.00001
NM_000156.6(GAMT):c.327+5C>T rs1489553949 0.00001
NM_000156.6(GAMT):c.328-1G>A rs756772965 0.00001
NM_000156.6(GAMT):c.347T>G (p.Leu116Arg) rs765281181 0.00001
NM_000156.6(GAMT):c.354G>C (p.Glu118Asp) rs1180941527 0.00001
NM_000156.6(GAMT):c.367A>G (p.Thr123Ala) rs771827261 0.00001
NM_000156.6(GAMT):c.372G>A (p.Leu124=) rs748762855 0.00001
NM_000156.6(GAMT):c.384C>T (p.His128=) rs1310922766 0.00001
NM_000156.6(GAMT):c.391+15G>T rs367567416 0.00001
NM_000156.6(GAMT):c.391+17C>T rs374989534 0.00001
NM_000156.6(GAMT):c.391+18G>A rs765964500 0.00001
NM_000156.6(GAMT):c.391+3G>A rs1339573774 0.00001
NM_000156.6(GAMT):c.392-19G>T rs1031492095 0.00001
NM_000156.6(GAMT):c.392-6G>A rs753979877 0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) rs374724533 0.00001
NM_000156.6(GAMT):c.408G>A (p.Thr136=) rs772974568 0.00001
NM_000156.6(GAMT):c.410A>C (p.Tyr137Ser) rs1131691930 0.00001
NM_000156.6(GAMT):c.414A>G (p.Pro138=) rs1376380710 0.00001
NM_000156.6(GAMT):c.426G>A (p.Glu142=) rs372673897 0.00001
NM_000156.6(GAMT):c.428C>T (p.Thr143Ile) rs746251691 0.00001
NM_000156.6(GAMT):c.437C>G (p.Thr146Arg) rs149821870 0.00001
NM_000156.6(GAMT):c.438A>G (p.Thr146=) rs80338733 0.00001
NM_000156.6(GAMT):c.459+17T>C rs1057522464 0.00001
NM_000156.6(GAMT):c.460-6C>T rs777981486 0.00001
NM_000156.6(GAMT):c.464A>T (p.His155Leu) rs1308730662 0.00001
NM_000156.6(GAMT):c.470T>G (p.Phe157Cys) rs751570656 0.00001
NM_000156.6(GAMT):c.473G>A (p.Arg158His) rs750195151 0.00001
NM_000156.6(GAMT):c.475C>T (p.Leu159=) rs765014324 0.00001
NM_000156.6(GAMT):c.492C>T (p.Gly164=) rs1555777026 0.00001
NM_000156.6(GAMT):c.553A>C (p.Ile185Leu) rs757108273 0.00001
NM_000156.6(GAMT):c.560T>C (p.Ile187Thr) rs1421013354 0.00001
NM_000156.6(GAMT):c.570+9A>C rs763489091 0.00001
NM_000156.6(GAMT):c.571-3C>G rs1367661704 0.00001
NM_000156.6(GAMT):c.571-8C>T rs1344390513 0.00001
NM_000156.6(GAMT):c.583C>G (p.Pro195Ala) rs1285848023 0.00001
NM_000156.6(GAMT):c.586G>A (p.Ala196Thr) rs1355291180 0.00001
NM_000156.6(GAMT):c.588G>A (p.Ala196=) rs747909654 0.00001
NM_000156.6(GAMT):c.601G>A (p.Gly201Ser) rs540554423 0.00001
NM_000156.6(GAMT):c.607C>T (p.Arg203Trp) rs746633494 0.00001
NM_000156.6(GAMT):c.624T>C (p.Arg208=) rs759873807 0.00001
NM_000156.6(GAMT):c.627G>A (p.Thr209=) rs1012771142 0.00001
NM_000156.6(GAMT):c.636G>A (p.Met212Ile) rs769713716 0.00001
NM_000156.6(GAMT):c.638C>T (p.Ala213Val) rs761535571 0.00001
NM_000156.6(GAMT):c.639G>A (p.Ala213=) rs373479245 0.00001
NM_000156.6(GAMT):c.649C>G (p.Pro217Ala) rs1192722850 0.00001
NM_000156.6(GAMT):c.654C>T (p.Ala218=) rs561375487 0.00001
NM_000156.6(GAMT):c.668dup (p.Tyr223Ter) rs781163821 0.00001
NM_000156.6(GAMT):c.672C>T (p.Ala224=) rs2082606258 0.00001
NM_000156.6(GAMT):c.675C>T (p.Phe225=) rs761788121 0.00001
NM_000156.6(GAMT):c.689C>T (p.Thr230Met) rs776537906 0.00001
NM_000156.6(GAMT):c.690G>A (p.Thr230=) rs763944598 0.00001
NM_000156.6(GAMT):c.701C>T (p.Thr234Ile) rs1401966018 0.00001
NC_000019.10:g.1399939del
NC_000019.9:g.(?_1398895)_(1401475_?)del
NM_000156.6(GAMT):c.*69G>A rs577136428
NM_000156.6(GAMT):c.181+18T>G rs2144640824
NM_000156.6(GAMT):c.182-10G>T rs1479331383
NM_000156.6(GAMT):c.182-12G>A
NM_000156.6(GAMT):c.182-17G>A
NM_000156.6(GAMT):c.182-265_182-228del rs1404813118
NM_000156.6(GAMT):c.182-2A>G rs2082624299
NM_000156.6(GAMT):c.182-3_182dup rs2082624287
NM_000156.6(GAMT):c.182-4C>T
NM_000156.6(GAMT):c.183G>A (p.Gly61=)
NM_000156.6(GAMT):c.183G>T (p.Gly61=) rs2082624249
NM_000156.6(GAMT):c.195G>A (p.Leu65=) rs2144638523
NM_000156.6(GAMT):c.199G>A (p.Val67Met)
NM_000156.6(GAMT):c.200T>A (p.Val67Glu) rs2082624036
NM_000156.6(GAMT):c.202G>T (p.Gly68Cys)
NM_000156.6(GAMT):c.218T>C (p.Ile73Thr) rs2082623820
NM_000156.6(GAMT):c.219C>G (p.Ile73Met)
NM_000156.6(GAMT):c.220G>C (p.Ala74Pro)
NM_000156.6(GAMT):c.221C>T (p.Ala74Val)
NM_000156.6(GAMT):c.222A>G (p.Ala74=)
NM_000156.6(GAMT):c.230A>G (p.Lys77Arg)
NM_000156.6(GAMT):c.232G>A (p.Val78Met) rs141358977
NM_000156.6(GAMT):c.233T>A (p.Val78Glu)
NM_000156.6(GAMT):c.235C>T (p.Gln79Ter)
NM_000156.6(GAMT):c.237G>A (p.Gln79=)
NM_000156.6(GAMT):c.243G>A (p.Ala81=) rs1048118950
NM_000156.6(GAMT):c.246C>A (p.Pro82=)
NM_000156.6(GAMT):c.246C>T (p.Pro82=)
NM_000156.6(GAMT):c.248T>C (p.Ile83Thr) rs796052523
NM_000156.6(GAMT):c.250G>C (p.Asp84His) rs762438523
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter) rs761115975
NM_000156.6(GAMT):c.261G>C (p.Trp87Cys)
NM_000156.6(GAMT):c.262ATC[1] (p.Ile89del) rs750232484
NM_000156.6(GAMT):c.264C>A (p.Ile88=)
NM_000156.6(GAMT):c.264C>T (p.Ile88=)
NM_000156.6(GAMT):c.267C>A (p.Ile89=) rs1457175740
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys) rs1569006974
NM_000156.6(GAMT):c.273C>T (p.Cys91=) rs2144638258
NM_000156.6(GAMT):c.274A>G (p.Asn92Asp)
NM_000156.6(GAMT):c.276T>C (p.Asn92=) rs767814433
NM_000156.6(GAMT):c.278A>T (p.Asp93Val)
NM_000156.6(GAMT):c.280G>A (p.Gly94Ser) rs774689819
NM_000156.6(GAMT):c.288C>G (p.Phe96Leu) rs1600159259
NM_000156.6(GAMT):c.289del (p.Gln97fs)
NM_000156.6(GAMT):c.291G>A (p.Gln97=) rs796052524
NM_000156.6(GAMT):c.291G>T (p.Gln97His) rs796052524
NM_000156.6(GAMT):c.292C>A (p.Arg98=)
NM_000156.6(GAMT):c.295C>T (p.Leu99Phe) rs1085307596
NM_000156.6(GAMT):c.299G>A (p.Arg100Gln)
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.301del (p.Asp101fs) rs780806777
NM_000156.6(GAMT):c.304T>C (p.Trp102Arg)
NM_000156.6(GAMT):c.305G>A (p.Trp102Ter) rs2144638122
NM_000156.6(GAMT):c.306G>A (p.Trp102Ter)
NM_000156.6(GAMT):c.307del (p.Ala103fs) rs2082622867
NM_000156.6(GAMT):c.308C>T (p.Ala103Val) rs1298671907
NM_000156.6(GAMT):c.309C>G (p.Ala103=) rs2144638101
NM_000156.6(GAMT):c.313_314insTG (p.Arg105fs) rs2144638078
NM_000156.6(GAMT):c.315G>A (p.Arg105=) rs559092619
NM_000156.6(GAMT):c.316C>T (p.Gln106Ter) rs1369786965
NM_000156.6(GAMT):c.321A>G (p.Thr107=)
NM_000156.6(GAMT):c.324C>T (p.His108=)
NM_000156.6(GAMT):c.324_325del (p.His108fs) rs2144638048
NM_000156.6(GAMT):c.327+11G>A
NM_000156.6(GAMT):c.327+14C>T
NM_000156.6(GAMT):c.327+15G>A
NM_000156.6(GAMT):c.327+15G>C
NM_000156.6(GAMT):c.327+15G>T
NM_000156.6(GAMT):c.327+17A>G
NM_000156.6(GAMT):c.327+18G>A
NM_000156.6(GAMT):c.327+19G>A
NM_000156.6(GAMT):c.327+19G>T
NM_000156.6(GAMT):c.327+1G>T rs2144638033
NM_000156.6(GAMT):c.327+2T>G
NM_000156.6(GAMT):c.327+4C>T rs767824933
NM_000156.6(GAMT):c.327+7C>T
NM_000156.6(GAMT):c.327+9C>T
NM_000156.6(GAMT):c.328-11C>T
NM_000156.6(GAMT):c.328-13del
NM_000156.6(GAMT):c.328-15T>C
NM_000156.6(GAMT):c.328-15T>G
NM_000156.6(GAMT):c.328-17C>A
NM_000156.6(GAMT):c.328-19_328-18del rs911385649
NM_000156.6(GAMT):c.328-23_328-20del
NM_000156.6(GAMT):c.328-2A>G rs2082621259
NM_000156.6(GAMT):c.328-5G>A rs1321189630
NM_000156.6(GAMT):c.328-5G>C
NM_000156.6(GAMT):c.328-7C>G
NM_000156.6(GAMT):c.328-7C>T
NM_000156.6(GAMT):c.328-9C>T rs1220189610
NM_000156.6(GAMT):c.332_338del (p.Ile111fs)
NM_000156.6(GAMT):c.339G>A (p.Leu113=) rs572944977
NM_000156.6(GAMT):c.339G>C (p.Leu113Phe)
NM_000156.6(GAMT):c.346C>A (p.Leu116Met) rs1467451589
NM_000156.6(GAMT):c.346C>T (p.Leu116=)
NM_000156.6(GAMT):c.347T>A (p.Leu116Gln) rs765281181
NM_000156.6(GAMT):c.350G>A (p.Trp117Ter) rs2144637546
NM_000156.6(GAMT):c.356A>G (p.Asp119Gly) rs2082620997
NM_000156.6(GAMT):c.356dup (p.Asp119fs) rs2144637533
NM_000156.6(GAMT):c.358G>A (p.Val120Met) rs2082620964
NM_000156.6(GAMT):c.360G>A (p.Val120=) rs776439107
NM_000156.6(GAMT):c.366C>G (p.Pro122=)
NM_000156.6(GAMT):c.369C>G (p.Thr123=)
NM_000156.6(GAMT):c.369C>T (p.Thr123=)
NM_000156.6(GAMT):c.370del (p.Leu124fs)
NM_000156.6(GAMT):c.372G>C (p.Leu124=) rs748762855
NM_000156.6(GAMT):c.385T>G (p.Phe129Val) rs2144637427
NM_000156.6(GAMT):c.389A>C (p.Asp130Ala) rs2082620621
NM_000156.6(GAMT):c.391+18G>C
NM_000156.6(GAMT):c.391+1G>C rs1600158894
NM_000156.6(GAMT):c.391+20A>G
NM_000156.6(GAMT):c.391+47A>G rs73515058
NM_000156.6(GAMT):c.391+8G>C rs1333892851
NM_000156.6(GAMT):c.391+9_391+15del rs2144637383
NM_000156.6(GAMT):c.391G>C (p.Gly131Arg)
NM_000156.6(GAMT):c.392-10C>T
NM_000156.6(GAMT):c.392-11T>C
NM_000156.6(GAMT):c.392-13G>A
NM_000156.6(GAMT):c.392-13G>T
NM_000156.6(GAMT):c.392-14T>C
NM_000156.6(GAMT):c.392-15C>T
NM_000156.6(GAMT):c.392-15_392-14del
NM_000156.6(GAMT):c.392-17T>G
NM_000156.6(GAMT):c.392-19G>A rs1031492095
NM_000156.6(GAMT):c.392-1G>A rs1600158650
NM_000156.6(GAMT):c.392-2A>G rs2082618808
NM_000156.6(GAMT):c.392-5T>G
NM_000156.6(GAMT):c.392-6G>C rs753979877
NM_000156.6(GAMT):c.392-9T>C
NM_000156.6(GAMT):c.392-9T>G rs2082618862
NM_000156.6(GAMT):c.393G>T (p.Gly131=)
NM_000156.6(GAMT):c.397C>T (p.Leu133=) rs2144636902
NM_000156.6(GAMT):c.399G>T (p.Leu133=) rs2144636896
NM_000156.6(GAMT):c.402C>A (p.Tyr134Ter) rs556829801
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter) rs556829801
NM_000156.6(GAMT):c.403G>C (p.Asp135His)
NM_000156.6(GAMT):c.403G>T (p.Asp135Tyr)
NM_000156.6(GAMT):c.411C>G (p.Tyr137Ter)
NM_000156.6(GAMT):c.414_415del (p.Ser140fs) rs2144636856
NM_000156.6(GAMT):c.418T>A (p.Ser140Thr)
NM_000156.6(GAMT):c.419C>A (p.Ser140Ter) rs747656257
NM_000156.6(GAMT):c.421GAG[1] (p.Glu142del)
NM_000156.6(GAMT):c.429C>G (p.Thr143=) rs779376340
NM_000156.6(GAMT):c.429C>T (p.Thr143=)
NM_000156.6(GAMT):c.432G>A (p.Trp144Ter) rs1600158570
NM_000156.6(GAMT):c.432_433dup (p.His145fs) rs2144636785
NM_000156.6(GAMT):c.435C>G (p.His145Gln) rs2144636777
NM_000156.6(GAMT):c.439C>T (p.His147Tyr)
NM_000156.6(GAMT):c.440_441del (p.His147fs) rs1487842051
NM_000156.6(GAMT):c.440_441dup (p.Gln148fs) rs1487842051
NM_000156.6(GAMT):c.441C>A (p.His147Gln) rs1555777047
NM_000156.6(GAMT):c.442dup (p.Gln148fs) rs2082618262
NM_000156.6(GAMT):c.444_448del (p.Phe149fs)
NM_000156.6(GAMT):c.449A>G (p.Asn150Ser)
NM_000156.6(GAMT):c.456C>A (p.Ile152=) rs1198352263
NM_000156.6(GAMT):c.456C>G (p.Ile152Met)
NM_000156.6(GAMT):c.459+11C>T
NM_000156.6(GAMT):c.459+12dup
NM_000156.6(GAMT):c.459+19C>T
NM_000156.6(GAMT):c.459+1G>A
NM_000156.6(GAMT):c.459+3G>T rs756194610
NM_000156.6(GAMT):c.459+8T>C rs2144636697
NM_000156.6(GAMT):c.459+9_459+12del rs762239322
NM_000156.6(GAMT):c.460-12C>G
NM_000156.6(GAMT):c.460-15A>G
NM_000156.6(GAMT):c.460-3C>T
NM_000156.6(GAMT):c.460-5C>T
NM_000156.6(GAMT):c.460-9C>G rs900568054
NM_000156.6(GAMT):c.460-9C>T rs900568054
NM_000156.6(GAMT):c.462C>G (p.Asn154Lys) rs748256259
NM_000156.6(GAMT):c.462C>T (p.Asn154=) rs748256259
NM_000156.6(GAMT):c.463C>G (p.His155Asp) rs1374777721
NM_000156.6(GAMT):c.463C>T (p.His155Tyr) rs1374777721
NM_000156.6(GAMT):c.465C>T (p.His155=) rs1454250040
NM_000156.6(GAMT):c.466G>A (p.Ala156Thr)
NM_000156.6(GAMT):c.470_476del (p.Phe157fs) rs2144636455
NM_000156.6(GAMT):c.475del (p.Leu159fs)
NM_000156.6(GAMT):c.476T>C (p.Leu159Pro) rs2144636453
NM_000156.6(GAMT):c.479T>G (p.Leu160Arg)
NM_000156.6(GAMT):c.484C>T (p.Pro162Ser) rs1727242337
NM_000156.6(GAMT):c.486G>C (p.Pro162=) rs368650653
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000156.6(GAMT):c.491G>T (p.Gly164Val) rs760101382
NM_000156.6(GAMT):c.491del (p.Gly164fs) rs749390953
NM_000156.6(GAMT):c.491dup (p.Val165fs) rs749390953
NM_000156.6(GAMT):c.492C>G (p.Gly164=) rs1555777026
NM_000156.6(GAMT):c.497T>C (p.Leu166Pro) rs1483148182
NM_000156.6(GAMT):c.503_517del (p.Tyr168_Thr172del)
NM_000156.6(GAMT):c.504C>G (p.Tyr168Ter) rs2082617068
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg) rs1600158346
NM_000156.6(GAMT):c.507C>T (p.Cys169=) rs1555777024
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) rs779931959
NM_000156.6(GAMT):c.509A>G (p.Asn170Ser) rs202199674
NM_000156.6(GAMT):c.513C>A (p.Leu171=)
NM_000156.6(GAMT):c.513C>T (p.Leu171=) rs748417607
NM_000156.6(GAMT):c.515C>T (p.Thr172Ile)
NM_000156.6(GAMT):c.516C>A (p.Thr172=) rs2144636311
NM_000156.6(GAMT):c.516C>T (p.Thr172=) rs2144636311
NM_000156.6(GAMT):c.519C>T (p.Ser173=)
NM_000156.6(GAMT):c.520T>C (p.Trp174Arg) rs891042971
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter) rs200444143
NM_000156.6(GAMT):c.521G>T (p.Trp174Leu) rs200444143
NM_000156.6(GAMT):c.522G>C (p.Trp174Cys)
NM_000156.6(GAMT):c.523G>T (p.Gly175Trp) rs758371494
NM_000156.6(GAMT):c.525G>A (p.Gly175=) rs2144636249
NM_000156.6(GAMT):c.525G>C (p.Gly175=) rs2144636249
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter) rs796052525
NM_000156.6(GAMT):c.526del (p.Glu176fs) rs2144636246
NM_000156.6(GAMT):c.526dup (p.Glu176fs) rs2144636246
NM_000156.6(GAMT):c.527A>G (p.Glu176Gly)
NM_000156.6(GAMT):c.529C>T (p.Leu177=) rs750356640
NM_000156.6(GAMT):c.530T>G (p.Leu177Arg) rs1555777015
NM_000156.6(GAMT):c.531G>A (p.Leu177=) rs2144636218
NM_000156.6(GAMT):c.534dup (p.Lys179fs) rs2144636214
NM_000156.6(GAMT):c.536del (p.Lys179fs) rs2144636198
NM_000156.6(GAMT):c.537G>A (p.Lys179=) rs2144636191
NM_000156.6(GAMT):c.540C>T (p.Ser180=) rs2144636187
NM_000156.6(GAMT):c.552C>T (p.Asp184=)
NM_000156.6(GAMT):c.555C>T (p.Ile185=) rs2144636150
NM_000156.6(GAMT):c.562A>G (p.Met188Val) rs1366312192
NM_000156.6(GAMT):c.563T>A (p.Met188Lys) rs1163644565
NM_000156.6(GAMT):c.563T>C (p.Met188Thr)
NM_000156.6(GAMT):c.564G>T (p.Met188Ile)
NM_000156.6(GAMT):c.570+11C>G
NM_000156.6(GAMT):c.570+11C>T
NM_000156.6(GAMT):c.570+17T>C
NM_000156.6(GAMT):c.570+1G>A rs2144636105
NM_000156.6(GAMT):c.570+5G>A rs199678332
NM_000156.6(GAMT):c.570+5G>T rs199678332
NM_000156.6(GAMT):c.570+6C>T
NM_000156.6(GAMT):c.571-10C>T
NM_000156.6(GAMT):c.571-12A>G
NM_000156.6(GAMT):c.571-3C>A
NM_000156.6(GAMT):c.571-5A>G
NM_000156.6(GAMT):c.571-6G>C rs2074899
NM_000156.6(GAMT):c.571-7_571-6delinsTA rs2144633742
NM_000156.6(GAMT):c.571-9C>T rs775582832
NM_000156.6(GAMT):c.571G>A (p.Glu191Lys)
NM_000156.6(GAMT):c.577C>G (p.Gln193Glu)
NM_000156.6(GAMT):c.577C>T (p.Gln193Ter)
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg) rs2082607477
NM_000156.6(GAMT):c.579G>A (p.Gln193=) rs1215212718
NM_000156.6(GAMT):c.584C>T (p.Pro195Leu) rs1569003317
NM_000156.6(GAMT):c.588G>T (p.Ala196=) rs747909654
NM_000156.6(GAMT):c.590T>C (p.Leu197Pro)
NM_000156.6(GAMT):c.591G>A (p.Leu197=) rs2144633664
NM_000156.6(GAMT):c.593T>C (p.Leu198Pro) rs1030954874
NM_000156.6(GAMT):c.593T>G (p.Leu198Arg)
NM_000156.6(GAMT):c.594G>A (p.Leu198=) rs1569003278
NM_000156.6(GAMT):c.595G>A (p.Glu199Lys)
NM_000156.6(GAMT):c.595dup (p.Glu199fs)
NM_000156.6(GAMT):c.602G>A (p.Gly201Asp) rs2082607153
NM_000156.6(GAMT):c.606C>T (p.Phe202=)
NM_000156.6(GAMT):c.608_621del (p.Arg203fs)
NM_000156.6(GAMT):c.609dup (p.Arg204fs) rs745740974
NM_000156.6(GAMT):c.610A>G (p.Arg204Gly)
NM_000156.6(GAMT):c.610_611delinsGAA (p.Arg204fs)
NM_000156.6(GAMT):c.615G>A (p.Glu205=) rs1390338375
NM_000156.6(GAMT):c.617A>G (p.Asn206Ser)
NM_000156.6(GAMT):c.622C>A (p.Arg208Ser) rs778279369
NM_000156.6(GAMT):c.623G>T (p.Arg208Leu)
NM_000156.6(GAMT):c.630G>A (p.Glu210=)
NM_000156.6(GAMT):c.631G>C (p.Val211Leu) rs2144633525
NM_000156.6(GAMT):c.635T>A (p.Met212Lys)
NM_000156.6(GAMT):c.648A>G (p.Pro216=)
NM_000156.6(GAMT):c.650C>A (p.Pro217Gln) rs139890971
NM_000156.6(GAMT):c.651G>T (p.Pro217=)
NM_000156.6(GAMT):c.654C>G (p.Ala218=) rs561375487
NM_000156.6(GAMT):c.657C>A (p.Asp219Glu)
NM_000156.6(GAMT):c.666C>T (p.Tyr222=)
NM_000156.6(GAMT):c.669C>G (p.Tyr223Ter) rs762954251
NM_000156.6(GAMT):c.670G>C (p.Ala224Pro) rs141471799
NM_000156.6(GAMT):c.677C>T (p.Pro226Leu) rs796052528
NM_000156.6(GAMT):c.678A>G (p.Pro226=)
NM_000156.6(GAMT):c.690G>T (p.Thr230=)
NM_000156.6(GAMT):c.692C>T (p.Pro231Leu)
NM_000156.6(GAMT):c.693C>T (p.Pro231=)
NM_000156.6(GAMT):c.697G>A (p.Val233Met) rs771709696
NM_000156.6(GAMT):c.702C>T (p.Thr234=) rs1375010161
NM_000156.6(GAMT):c.705A>T (p.Lys235Asn)

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