ClinVar Miner

List of variants in gene GAMT reported as likely benign for inborn disorder of amino acid and other organic acid metabolism

Included ClinVar conditions (315):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.*11C>T rs149268921 0.01866
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.581T>C (p.Val194Ala) rs147739199 0.00077
NM_000156.6(GAMT):c.279C>T (p.Asp93=) rs144630886 0.00028
NM_000156.6(GAMT):c.328-10C>T rs371511930 0.00019
NM_000156.6(GAMT):c.575C>T (p.Thr192Met) rs141066224 0.00013
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.201G>A (p.Val67=) rs745986528 0.00007
NM_000156.6(GAMT):c.396C>A (p.Ile132=) rs200500835 0.00007
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.651G>A (p.Pro217=) rs745327521 0.00005
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.585C>T (p.Pro195=) rs371024035 0.00004
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn) rs753228876 0.00004
NM_000156.6(GAMT):c.181+20C>G rs747307760 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.600C>T (p.Ala200=) rs200679529 0.00003
NM_000156.6(GAMT):c.669C>T (p.Tyr223=) rs762954251 0.00003
NM_000156.6(GAMT):c.189G>C (p.Arg63=) rs568392459 0.00002
NM_000156.6(GAMT):c.219C>T (p.Ile73=) rs1417220310 0.00002
NM_000156.6(GAMT):c.225G>A (p.Ala75=) rs202151546 0.00002
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser) rs570476209 0.00002
NM_000156.6(GAMT):c.486G>A (p.Pro162=) rs368650653 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.*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.228A>T (p.Ser76=) rs752364729 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.312A>G (p.Pro104=) rs779679242 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+17C>T rs374989534 0.00001
NM_000156.6(GAMT):c.391+18G>A rs765964500 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.408G>A (p.Thr136=) rs772974568 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.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.475C>T (p.Leu159=) rs765014324 0.00001
NM_000156.6(GAMT):c.492C>T (p.Gly164=) rs1555777026 0.00001
NM_000156.6(GAMT):c.570+9A>C rs763489091 0.00001
NM_000156.6(GAMT):c.571-8C>T rs1344390513 0.00001
NM_000156.6(GAMT):c.588G>A (p.Ala196=) rs747909654 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.639G>A (p.Ala213=) rs373479245 0.00001
NM_000156.6(GAMT):c.654C>T (p.Ala218=) rs561375487 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.690G>A (p.Thr230=) rs763944598 0.00001
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.182-4C>T
NM_000156.6(GAMT):c.183G>A (p.Gly61=)
NM_000156.6(GAMT):c.195G>A (p.Leu65=) rs2144638523
NM_000156.6(GAMT):c.222A>G (p.Ala74=)
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.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.273C>T (p.Cys91=) rs2144638258
NM_000156.6(GAMT):c.276T>C (p.Asn92=) rs767814433
NM_000156.6(GAMT):c.291G>A (p.Gln97=) rs796052524
NM_000156.6(GAMT):c.292C>A (p.Arg98=)
NM_000156.6(GAMT):c.309C>G (p.Ala103=) rs2144638101
NM_000156.6(GAMT):c.315G>A (p.Arg105=) rs559092619
NM_000156.6(GAMT):c.321A>G (p.Thr107=)
NM_000156.6(GAMT):c.324C>T (p.His108=)
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+7C>T
NM_000156.6(GAMT):c.327+9C>T
NM_000156.6(GAMT):c.328-11C>T
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.328-5G>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.339G>A (p.Leu113=) rs572944977
NM_000156.6(GAMT):c.346C>T (p.Leu116=)
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.372G>C (p.Leu124=) rs748762855
NM_000156.6(GAMT):c.391+18G>C
NM_000156.6(GAMT):c.391+20A>G
NM_000156.6(GAMT):c.391+8G>C rs1333892851
NM_000156.6(GAMT):c.391+9_391+15del rs2144637383
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.392-5T>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.429C>G (p.Thr143=) rs779376340
NM_000156.6(GAMT):c.429C>T (p.Thr143=)
NM_000156.6(GAMT):c.456C>A (p.Ile152=) rs1198352263
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+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.460-5C>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>T (p.Asn154=) rs748256259
NM_000156.6(GAMT):c.465C>T (p.His155=) rs1454250040
NM_000156.6(GAMT):c.486G>C (p.Pro162=) rs368650653
NM_000156.6(GAMT):c.492C>G (p.Gly164=) rs1555777026
NM_000156.6(GAMT):c.507C>T (p.Cys169=) rs1555777024
NM_000156.6(GAMT):c.513C>A (p.Leu171=)
NM_000156.6(GAMT):c.513C>T (p.Leu171=) rs748417607
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.525G>A (p.Gly175=) rs2144636249
NM_000156.6(GAMT):c.525G>C (p.Gly175=) rs2144636249
NM_000156.6(GAMT):c.529C>T (p.Leu177=) rs750356640
NM_000156.6(GAMT):c.531G>A (p.Leu177=) rs2144636218
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.570+11C>G
NM_000156.6(GAMT):c.570+11C>T
NM_000156.6(GAMT):c.570+17T>C
NM_000156.6(GAMT):c.571-10C>T
NM_000156.6(GAMT):c.571-12A>G
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.579G>A (p.Gln193=) rs1215212718
NM_000156.6(GAMT):c.588G>T (p.Ala196=) rs747909654
NM_000156.6(GAMT):c.591G>A (p.Leu197=) rs2144633664
NM_000156.6(GAMT):c.606C>T (p.Phe202=)
NM_000156.6(GAMT):c.615G>A (p.Glu205=) rs1390338375
NM_000156.6(GAMT):c.630G>A (p.Glu210=)
NM_000156.6(GAMT):c.648A>G (p.Pro216=)
NM_000156.6(GAMT):c.651G>T (p.Pro217=)
NM_000156.6(GAMT):c.654C>G (p.Ala218=) rs561375487
NM_000156.6(GAMT):c.666C>T (p.Tyr222=)
NM_000156.6(GAMT):c.678A>G (p.Pro226=)
NM_000156.6(GAMT):c.690G>T (p.Thr230=)
NM_000156.6(GAMT):c.693C>T (p.Pro231=)
NM_000156.6(GAMT):c.705A>T (p.Lys235Asn)

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