ClinVar Miner

List of variants in gene GAMT reported as likely pathogenic

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter) rs1057524499 0.00003
NM_000156.6(GAMT):c.328G>T (p.Val110Phe) rs753198836 0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn) rs774144200 0.00002
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) rs121909272 0.00002
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) rs1441030187 0.00001
NM_000156.6(GAMT):c.317A>C (p.Gln106Pro) rs145817990 0.00001
NM_000156.6(GAMT):c.328-1G>A rs756772965 0.00001
NM_000156.6(GAMT):c.391+15G>T rs367567416 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.182-2A>G rs2082624299
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.261G>A (p.Trp87Ter) rs761115975
NM_000156.6(GAMT):c.274A>G (p.Asn92Asp)
NM_000156.6(GAMT):c.301del (p.Asp101fs) rs780806777
NM_000156.6(GAMT):c.307del (p.Ala103fs) rs2082622867
NM_000156.6(GAMT):c.324_325del (p.His108fs) rs2144638048
NM_000156.6(GAMT):c.327+1G>T rs2144638033
NM_000156.6(GAMT):c.327+2T>G
NM_000156.6(GAMT):c.328-2A>G rs2082621259
NM_000156.6(GAMT):c.332_338del (p.Ile111fs)
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.391G>C (p.Gly131Arg)
NM_000156.6(GAMT):c.392-1G>A rs1600158650
NM_000156.6(GAMT):c.392-2A>G rs2082618808
NM_000156.6(GAMT):c.402C>A (p.Tyr134Ter) rs556829801
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.439C>T (p.His147Tyr)
NM_000156.6(GAMT):c.459+1G>A
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.497T>C (p.Leu166Pro) rs1483148182
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
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.520T>C (p.Trp174Arg) rs891042971
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter) rs796052525
NM_000156.6(GAMT):c.526del (p.Glu176fs) rs2144636246
NM_000156.6(GAMT):c.564G>T (p.Met188Ile)
NM_000156.6(GAMT):c.590T>C (p.Leu197Pro)
NM_000156.6(GAMT):c.595dup (p.Glu199fs)
NM_000156.6(GAMT):c.610_611delinsGAA (p.Arg204fs)

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