ClinVar Miner

List of variants in gene GAMT reported by GeneDx

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Gene type:
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Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.460-31G>A rs55776826 0.14411
NM_000156.6(GAMT):c.182-308A>G rs73515062 0.08648
NM_000156.6(GAMT):c.571-60C>T rs266809 0.07175
NM_000156.6(GAMT):c.182-173G>A rs112975707 0.04697
NM_000156.6(GAMT):c.327+69T>G rs266808 0.04642
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.570+550C>T rs148573404 0.00872
NM_000156.6(GAMT):c.570+133G>A rs114229164 0.00496
NM_000156.6(GAMT):c.181+112C>T rs148193556 0.00429
NM_000156.6(GAMT):c.*89C>A rs558767159 0.00362
NM_000156.6(GAMT):c.391+160A>T rs139823916 0.00339
NM_000156.6(GAMT):c.570+241G>C rs112200521 0.00152
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.182-39G>A rs146736307 0.00122
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199 0.00077
NM_000156.6(GAMT):c.*2C>G rs148733734 0.00062
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) rs150338273 0.00036
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.570+60A>G rs748982285 0.00012
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.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.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.*17G>A rs750579816 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.471T>G (p.Phe157Leu) rs372260609 0.00003
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter) rs1057524499 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.650C>T (p.Pro217Leu) rs139890971 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.328G>T (p.Val110Phe) rs753198836 0.00002
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser) rs570476209 0.00002
NM_000156.6(GAMT):c.493G>A (p.Val165Ile) rs1050914 0.00002
NM_000156.6(GAMT):c.571-7C>T rs767793408 0.00002
NM_000156.6(GAMT):c.642G>A (p.Leu214=) rs746723263 0.00002
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) rs77168423 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.367A>G (p.Thr123Ala) rs771827261 0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) rs374724533 0.00001
NM_000156.6(GAMT):c.410A>C (p.Tyr137Ser) rs1131691930 0.00001
NM_000156.6(GAMT):c.459+17T>C rs1057522464 0.00001
NM_000156.6(GAMT):c.551A>G (p.Asp184Gly) rs1569005073 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.689C>T (p.Thr230Met) rs776537906 0.00001
NM_000156.6(GAMT):c.182-265_182-228del rs1404813118
NM_000156.6(GAMT):c.248T>A (p.Ile83Asn) rs796052523
NM_000156.6(GAMT):c.262ATC[1] (p.Ile89del) rs750232484
NM_000156.6(GAMT):c.291G>T (p.Gln97His) rs796052524
NM_000156.6(GAMT):c.295C>T (p.Leu99Phe) rs1085307596
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.315G>A (p.Arg105=) rs559092619
NM_000156.6(GAMT):c.320C>T (p.Thr107Ile) rs866376854
NM_000156.6(GAMT):c.327+16C>T rs1007132706
NM_000156.6(GAMT):c.350G>C (p.Trp117Ser) rs2144637546
NM_000156.6(GAMT):c.372G>C (p.Leu124=) rs748762855
NM_000156.6(GAMT):c.391+47A>G rs73515058
NM_000156.6(GAMT):c.391+5G>A rs2144637402
NM_000156.6(GAMT):c.441C>A (p.His147Gln) rs1555777047
NM_000156.6(GAMT):c.459+9_459+12del rs762239322
NM_000156.6(GAMT):c.460-9C>T rs900568054
NM_000156.6(GAMT):c.462C>G (p.Asn154Lys) rs748256259
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000156.6(GAMT):c.491del (p.Gly164fs) rs749390953
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
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.518C>T (p.Ser173Phe) rs2144636300
NM_000156.6(GAMT):c.523G>C (p.Gly175Arg) rs758371494
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter) rs796052525
NM_000156.6(GAMT):c.527A>C (p.Glu176Ala) rs796052526
NM_000156.6(GAMT):c.529C>G (p.Leu177Val) rs750356640
NM_000156.6(GAMT):c.543G>A (p.Lys181=) rs2144636180
NM_000156.6(GAMT):c.570+244T>C rs2144635612
NM_000156.6(GAMT):c.570+304del rs61684562
NM_000156.6(GAMT):c.570+472GAAA[7] rs111493245
NM_000156.6(GAMT):c.570+5G>A rs199678332
NM_000156.6(GAMT):c.571-9C>T rs775582832
NM_000156.6(GAMT):c.677C>T (p.Pro226Leu) rs796052528

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