ClinVar Miner

List of variants in gene GAMT studied for Deficiency of guanidinoacetate methyltransferase

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Total variants: 156
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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.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.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.511C>G (p.Leu171Val) rs770110177 0.00005
NM_000156.6(GAMT):c.311C>T (p.Pro104Leu) rs368864187 0.00004
NM_000156.6(GAMT):c.419C>T (p.Ser140Leu) rs747656257 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.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.460-7T>G rs1200384623 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.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.187C>T (p.Arg63Trp) rs777102623 0.00002
NM_000156.6(GAMT):c.189G>C (p.Arg63=) rs568392459 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.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.*136C>A rs566649324 0.00001
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) rs77168423 0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) rs1441030187 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.317A>C (p.Gln106Pro) rs145817990 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.367A>G (p.Thr123Ala) rs771827261 0.00001
NM_000156.6(GAMT):c.372G>A (p.Leu124=) rs748762855 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.438A>G (p.Thr146=) rs80338733 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.553A>C (p.Ile185Leu) rs757108273 0.00001
NM_000156.6(GAMT):c.560T>C (p.Ile187Thr) rs1421013354 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.601G>A (p.Gly201Ser) rs540554423 0.00001
NM_000156.6(GAMT):c.607C>T (p.Arg203Trp) rs746633494 0.00001
NM_000156.6(GAMT):c.638C>T (p.Ala213Val) rs761535571 0.00001
NM_000156.6(GAMT):c.668dup (p.Tyr223Ter) rs781163821 0.00001
NM_000156.6(GAMT):c.689C>T (p.Thr230Met) rs776537906 0.00001
NM_000156.6(GAMT):c.701C>T (p.Thr234Ile) rs1401966018 0.00001
NM_000156.6(GAMT):c.*69G>A rs577136428
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.202G>T (p.Gly68Cys)
NM_000156.6(GAMT):c.220G>C (p.Ala74Pro)
NM_000156.6(GAMT):c.233T>A (p.Val78Glu)
NM_000156.6(GAMT):c.235C>T (p.Gln79Ter)
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter) rs761115975
NM_000156.6(GAMT):c.262ATC[1] (p.Ile89del) rs750232484
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys) rs1569006974
NM_000156.6(GAMT):c.274A>G (p.Asn92Asp)
NM_000156.6(GAMT):c.280G>A (p.Gly94Ser) rs774689819
NM_000156.6(GAMT):c.291G>T (p.Gln97His) rs796052524
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.301del (p.Asp101fs) rs780806777
NM_000156.6(GAMT):c.307del (p.Ala103fs) rs2082622867
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.324_325del (p.His108fs) rs2144638048
NM_000156.6(GAMT):c.327+1G>T rs2144638033
NM_000156.6(GAMT):c.328-2A>G rs2082621259
NM_000156.6(GAMT):c.332_338del (p.Ile111fs)
NM_000156.6(GAMT):c.339G>C (p.Leu113Phe)
NM_000156.6(GAMT):c.350G>A (p.Trp117Ter) rs2144637546
NM_000156.6(GAMT):c.356dup (p.Asp119fs) rs2144637533
NM_000156.6(GAMT):c.391+1G>C rs1600158894
NM_000156.6(GAMT):c.391+47A>G rs73515058
NM_000156.6(GAMT):c.391G>C (p.Gly131Arg)
NM_000156.6(GAMT):c.392-2A>G rs2082618808
NM_000156.6(GAMT):c.392-9T>G rs2082618862
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.419C>A (p.Ser140Ter) rs747656257
NM_000156.6(GAMT):c.421GAG[1] (p.Glu142del)
NM_000156.6(GAMT):c.439C>T (p.His147Tyr)
NM_000156.6(GAMT):c.442dup (p.Gln148fs) rs2082618262
NM_000156.6(GAMT):c.459+9_459+12del rs762239322
NM_000156.6(GAMT):c.462C>G (p.Asn154Lys) rs748256259
NM_000156.6(GAMT):c.463C>G (p.His155Asp) rs1374777721
NM_000156.6(GAMT):c.475del (p.Leu159fs)
NM_000156.6(GAMT):c.476T>C (p.Leu159Pro) rs2144636453
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000156.6(GAMT):c.491del (p.Gly164fs) rs749390953
NM_000156.6(GAMT):c.491dup (p.Val165fs) rs749390953
NM_000156.6(GAMT):c.497T>C (p.Leu166Pro) rs1483148182
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg) rs1600158346
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.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.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.564G>T (p.Met188Ile)
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.571G>A (p.Glu191Lys)
NM_000156.6(GAMT):c.577C>T (p.Gln193Ter)
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg) rs2082607477
NM_000156.6(GAMT):c.590T>C (p.Leu197Pro)
NM_000156.6(GAMT):c.595dup (p.Glu199fs)
NM_000156.6(GAMT):c.609dup (p.Arg204fs) rs745740974
NM_000156.6(GAMT):c.610_611delinsGAA (p.Arg204fs)
NM_000156.6(GAMT):c.650C>A (p.Pro217Gln) rs139890971
NM_000156.6(GAMT):c.677C>T (p.Pro226Leu) rs796052528
NM_000156.6(GAMT):c.702C>T (p.Thr234=) rs1375010161

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