List of variants in gene GAMT reported as likely pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000156.6(GAMT):c.391+15G>T	rs367567416	0.00001
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)	rs121909272	0.00001
NM_000156.6(GAMT):c.182-2A>G	rs2082624299
NM_000156.6(GAMT):c.233T>A (p.Val78Glu)	rs1600159342
NM_000156.6(GAMT):c.327+1G>T	rs2144638033
NM_000156.6(GAMT):c.327+2T>G	rs965903439
NM_000156.6(GAMT):c.328-2A>G	rs2082621259
NM_000156.6(GAMT):c.391+1G>C	rs1600158894
NM_000156.6(GAMT):c.392-2A>G	rs2082618808
NM_000156.6(GAMT):c.459+1G>A	rs113246280
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)	rs779931959
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter)	rs796052525
NM_000156.6(GAMT):c.609dup (p.Arg204fs)	rs745740974

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