ClinVar Miner

List of variants in gene GAMT studied for not specified

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Total variants: 46
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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 0.00983
NM_000156.6(GAMT):c.570+133G>A rs114229164 0.00496
NM_000156.6(GAMT):c.348G>A (p.Leu116=) rs117884619 0.00180
NM_000156.6(GAMT):c.392-7C>T rs192416474 0.00145
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199 0.00076
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.328-10C>T rs371511930 0.00019
NM_000156.6(GAMT):c.258T>C (p.His86=) rs367871393 0.00009
NM_000156.6(GAMT):c.270G>A (p.Glu90=) rs138754049 0.00008
NM_000156.6(GAMT):c.313C>T (p.Arg105Trp) rs757909053 0.00006
NM_000156.6(GAMT):c.402C>T (p.Tyr134=) rs556829801 0.00004
NM_000156.6(GAMT):c.*17G>A rs750579816 0.00003
NM_000156.6(GAMT):c.225G>A (p.Ala75=) rs202151546 0.00003
NM_000156.6(GAMT):c.585C>T (p.Pro195=) rs371024035 0.00003
NM_000156.6(GAMT):c.600C>T (p.Ala200=) rs200679529 0.00003
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.379G>A (p.Gly127Ser) rs570476209 0.00002
NM_000156.6(GAMT):c.642G>A (p.Leu214=) rs746723263 0.00002
NM_000156.6(GAMT):c.311C>T (p.Pro104Leu) rs368864187 0.00001
NM_000156.6(GAMT):c.312A>G (p.Pro104=) rs779679242 0.00001
NM_000156.6(GAMT):c.315G>A (p.Arg105=) rs559092619 0.00001
NM_000156.6(GAMT):c.327+5C>T rs1489553949 0.00001
NM_000156.6(GAMT):c.367A>G (p.Thr123Ala) rs771827261 0.00001
NM_000156.6(GAMT):c.391+15G>T rs367567416 0.00001
NM_000156.6(GAMT):c.459+17T>C rs1057522464 0.00001
NM_000156.6(GAMT):c.467C>A (p.Ala156Asp) rs368221789 0.00001
NM_000156.6(GAMT):c.471T>G (p.Phe157Leu) rs372260609 0.00001
NM_000156.6(GAMT):c.507C>T (p.Cys169=) rs1555777024 0.00001
NM_000156.6(GAMT):c.570+60A>G rs748982285 0.00001
NM_000156.6(GAMT):c.571-9C>T rs775582832 0.00001
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg) rs2082607477 0.00001
NC_000019.9:g.(?_1397025)_1397484del
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.327+16C>T rs1007132706
NM_000156.6(GAMT):c.372G>C (p.Leu124=) rs748762855
NM_000156.6(GAMT):c.459+9_459+12del rs762239322
NM_000156.6(GAMT):c.460-9C>T rs900568054
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg) rs1600158346
NM_000156.6(GAMT):c.520T>A (p.Trp174Arg)
NM_000156.6(GAMT):c.521G>T (p.Trp174Leu) rs200444143

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