ClinVar Miner

List of variants reported as pathogenic for Deficiency of guanidinoacetate methyltransferase by Genomics England Pilot Project, Genomics England

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Total variants: 2
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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.313_314insTG (p.Arg105fs) rs2144638078

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