ClinVar Miner

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

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Total variants: 13
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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.145del (p.Tyr49fs) rs1384688313 0.00001
NM_000156.6(GAMT):c.11_12del (p.Pro4fs)
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.392-2A>G rs2082618808
NM_000156.6(GAMT):c.475del (p.Leu159fs)
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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