ClinVar Miner

List of variants reported as pathogenic for Deficiency of guanidinoacetate methyltransferase

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Total variants: 40
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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.133T>A (p.Trp45Arg) rs886054247 0.00006
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
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.145del (p.Tyr49fs) rs1384688313 0.00001
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.407C>T (p.Thr136Met) rs374724533 0.00001
NM_000156.6(GAMT):c.11_36dup (p.Gly13fs) rs1460147564
NM_000156.6(GAMT):c.134G>A (p.Trp45Ter)
NM_000156.6(GAMT):c.148A>C (p.Met50Leu) rs104894694
NM_000156.6(GAMT):c.158_181+7del rs2144640849
NM_000156.6(GAMT):c.182-2A>G rs2082624299
NM_000156.6(GAMT):c.235C>T (p.Gln79Ter)
NM_000156.6(GAMT):c.24del (p.Ile9fs) rs967689898
NM_000156.6(GAMT):c.289del (p.Gln97fs)
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
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.328-2A>G rs2082621259
NM_000156.6(GAMT):c.356dup (p.Asp119fs) rs2144637533
NM_000156.6(GAMT):c.373_376del (p.Pro125fs)
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter) rs556829801
NM_000156.6(GAMT):c.403G>C (p.Asp135His)
NM_000156.6(GAMT):c.432G>A (p.Trp144Ter) rs1600158570
NM_000156.6(GAMT):c.442dup (p.Gln148fs) rs2082618262
NM_000156.6(GAMT):c.48C>A (p.Cys16Ter)
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.505T>C (p.Cys169Arg) rs1600158346
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.577C>T (p.Gln193Ter)
NM_000156.6(GAMT):c.58dup (p.Trp20fs)
NM_000156.6(GAMT):c.609dup (p.Arg204fs) rs745740974
NM_000156.6(GAMT):c.64dup (p.Ala22fs) rs1569009071

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