List of variants reported as pathogenic for Deficiency of guanidinoacetate methyltransferase by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 12

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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.59G>C (p.Trp20Ser)	rs80338734	0.00005
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)	rs370421531	0.00003
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)	rs121909272	0.00002
NM_000156.6(GAMT):c.145del (p.Tyr49fs)	rs1384688313	0.00001
NM_000156.6(GAMT):c.24del (p.Ile9fs)	rs967689898
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)	rs80338736
NM_000156.6(GAMT):c.316C>T (p.Gln106Ter)	rs1369786965
NM_000156.6(GAMT):c.491del (p.Gly164fs)	rs749390953
NM_000156.6(GAMT):c.491dup (p.Val165fs)	rs749390953
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter)	rs200444143
NM_000156.6(GAMT):c.577C>T (p.Gln193Ter)

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