List of variants reported as pathogenic for Deficiency of guanidinoacetate methyltransferase by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
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.299_311dup (p.Arg105fs)	rs80338736
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter)	rs556829801

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