ClinVar Miner

List of variants studied for Deficiency of guanidinoacetate methyltransferase by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.460-31G>A rs55776826 0.14411
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_000156.6(GAMT):c.391+47A>G rs73515058

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