ClinVar Miner

List of variants studied for disorder of multiple glycosylation by GenomeConnect, ClinGen

Included ClinVar conditions (30):

B4GALT1-congenital disorder of glycosylation
CCDC115-CDG
COG1 congenital disorder of glycosylation
COG4-congenital disorder of glycosylation
COG4-congenital disorder of glycosylation; Microcephalic osteodysplastic dysplasia, Saul-Wilson type
COG5-congenital disorder of glycosylation
COG6-congenital disorder of glycosylation
COG6-congenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
COG7 congenital disorder of glycosylation
COG8-congenital disorder of glycosylation
Congenital disorder of glycosylation type 1E
Congenital disorder of glycosylation, type IIq
Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II; Cowden syndrome 7
Congenital muscular dystrophy with intellectual disability and severe epilepsy
DK1-congenital disorder of glycosylation
DPM3-congenital disorder of glycosylation
Developmental and epileptic encephalopathy, 50
GNE myopathy
GNE myopathy; Sialuria
Immunodeficiency 23
Inclusion body myositis; GNE myopathy
Leukocyte adhesion deficiency type II
MPDU1-congenital disorder of glycosylation
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
SLC35A1-congenital disorder of glycosylation
SLC35A2-congenital disorder of glycosylation
SRD5A3-congenital disorder of glycosylation
SRD5A3-congenital disorder of glycosylation; Kahrizi syndrome
TMEM199-CDG

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)	rs757523840	0.00003
NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter)	rs555710402	0.00001
NM_020751.3(COG6):c.851C>G (p.Ala284Gly)	rs148869108

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