List of variants in gene NGLY1 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: 14

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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.1405C>T (p.Arg469Ter)	rs768131676	0.00003
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys)	rs757712371	0.00002
NM_018297.4(NGLY1):c.1150-1G>C	rs532007026	0.00001
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter)	rs146140738	0.00001
NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter)	rs528583612	0.00001
NM_018297.4(NGLY1):c.1242del (p.Asn415fs)	rs1575616394
NM_018297.4(NGLY1):c.1370dup (p.Arg458fs)	rs587777265
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)	rs765211108
NM_018297.4(NGLY1):c.1570dup (p.Met524fs)	rs1553652151
NM_018297.4(NGLY1):c.1604G>A (p.Trp535Ter)	rs767388144
NM_018297.4(NGLY1):c.1789+1G>T	rs1261363915
NM_018297.4(NGLY1):c.1891del (p.Gln631fs)	rs587776982
NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter)	rs200561967

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