List of variants in gene NGLY1 reported as likely pathogenic for Congenital disorder of deglycosylation

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_018297.4(NGLY1):c.1150-1G>C	rs532007026	0.00001
NM_018297.4(NGLY1):c.658+1G>A	rs756045177	0.00001
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys)	rs201791209	0.00001
NM_018297.4(NGLY1):c.1003+2T>C
NM_018297.4(NGLY1):c.1169G>A (p.Arg390Gln)	rs1135401728
NM_018297.4(NGLY1):c.1192del (p.Glu397_Val398insTer)
NM_018297.4(NGLY1):c.1294G>T (p.Glu432Ter)	rs992161646
NM_018297.4(NGLY1):c.1358del (p.Gly453fs)	rs2125466047
NM_018297.4(NGLY1):c.1426-1G>A	rs2125460077
NM_018297.4(NGLY1):c.1481_1488del (p.His494fs)	rs1575612023
NM_018297.4(NGLY1):c.1611+1G>C
NM_018297.4(NGLY1):c.1789G>A (p.Asp597Asn)
NM_018297.4(NGLY1):c.493-2A>G

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