ClinVar Miner

List of variants studied for Deficiency of guanidinoacetate methyltransferase by Center of Genomic medicine, Geneva, University Hospital of Geneva

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) rs121909272 0.00002
NM_000156.6(GAMT):c.145del (p.Tyr49fs) rs1384688313 0.00001

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