ClinVar Miner

List of variants in gene GAMT reported as pathogenic for brain disorder

Included ClinVar conditions (1840):
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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
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.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.289C>T (p.Gln97Ter) rs1215576338 0.00001
NM_000156.6(GAMT):c.328-1G>A rs756772965 0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) rs374724533 0.00001
NC_000019.10:g.1399939del
NC_000019.9:g.(?_1398895)_(1401475_?)del
NM_000156.6(GAMT):c.182-2A>G rs2082624299
NM_000156.6(GAMT):c.220G>C (p.Ala74Pro)
NM_000156.6(GAMT):c.235C>T (p.Gln79Ter)
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter) rs761115975
NM_000156.6(GAMT):c.289del (p.Gln97fs)
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.301del (p.Asp101fs) rs780806777
NM_000156.6(GAMT):c.305G>A (p.Trp102Ter) rs2144638122
NM_000156.6(GAMT):c.306G>A (p.Trp102Ter)
NM_000156.6(GAMT):c.307del (p.Ala103fs) rs2082622867
NM_000156.6(GAMT):c.313_314insTG (p.Arg105fs) rs2144638078
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.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.370del (p.Leu124fs)
NM_000156.6(GAMT):c.392-1G>A rs1600158650
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.414_415del (p.Ser140fs) rs2144636856
NM_000156.6(GAMT):c.419C>A (p.Ser140Ter) rs747656257
NM_000156.6(GAMT):c.432G>A (p.Trp144Ter) rs1600158570
NM_000156.6(GAMT):c.432_433dup (p.His145fs) rs2144636785
NM_000156.6(GAMT):c.440_441del (p.His147fs) rs1487842051
NM_000156.6(GAMT):c.440_441dup (p.Gln148fs) rs1487842051
NM_000156.6(GAMT):c.442dup (p.Gln148fs) rs2082618262
NM_000156.6(GAMT):c.444_448del (p.Phe149fs)
NM_000156.6(GAMT):c.470_476del (p.Phe157fs) rs2144636455
NM_000156.6(GAMT):c.475del (p.Leu159fs)
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.503_517del (p.Tyr168_Thr172del)
NM_000156.6(GAMT):c.504C>G (p.Tyr168Ter) rs2082617068
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.521G>A (p.Trp174Ter) rs200444143
NM_000156.6(GAMT):c.526del (p.Glu176fs) rs2144636246
NM_000156.6(GAMT):c.526dup (p.Glu176fs) rs2144636246
NM_000156.6(GAMT):c.534dup (p.Lys179fs) rs2144636214
NM_000156.6(GAMT):c.536del (p.Lys179fs) rs2144636198
NM_000156.6(GAMT):c.577C>T (p.Gln193Ter)
NM_000156.6(GAMT):c.608_621del (p.Arg203fs)
NM_000156.6(GAMT):c.609dup (p.Arg204fs) rs745740974

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