List of variants reported as likely 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.403G>A (p.Asp135Asn)	rs774144200	0.00002
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)	rs121909272	0.00002
NM_000156.6(GAMT):c.332_338del (p.Ile111fs)
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs)	rs1443859067

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