List of variants in gene NGLY1 reported as pathogenic for carbohydrate metabolism disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)	rs201337954	0.00031
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys)	rs757712371	0.00002
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter)	rs146140738	0.00001
GRCh38/hg38 3p24.2(chr3:25699606-25738988)x0
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)	rs765211108
NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs)	rs2125442722
NM_018297.4(NGLY1):c.1891del (p.Gln631fs)	rs587776982

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