List of variants in gene combination CNPY3-GNMT, GNMT reported as pathogenic for amino acid metabolism disease

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_018960.6(GNMT):c.529C>A (p.His177Asn)	rs121907889	0.00039
NM_018960.6(GNMT):c.149T>C (p.Leu50Pro)	rs121907888	0.00002
NM_018960.6(GNMT):c.422A>G (p.Asn141Ser)	rs864321678

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