List of variants in gene GAMT reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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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.522G>A (p.Trp174Ter)	rs370421531	0.00003
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)	rs374724533	0.00001
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)	rs80338736
NM_000156.6(GAMT):c.491del (p.Gly164fs)	rs749390953
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser)	rs1131691644

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