List of variants reported as pathogenic for Deficiency of guanidinoacetate methyltransferase by Illumina Laboratory Services, Illumina

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Total variants: 4

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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.133T>A (p.Trp45Arg)	rs886054247	0.00006
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)	rs80338734	0.00005
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)	rs370421531	0.00003

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