ClinVar Miner

List of variants in gene LARGE1, LOC130067281 studied for muscular dystrophy-dystroglycanopathy, type A

Included ClinVar conditions (35):

Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscle eye brain disease
Muscle eye brain disease; Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Muscular dystrophy-dystroglycanopathy type B6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Walker-Warburg congenital muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_133642.5(LARGE1):c.-480C>T	rs886057469	0.00148
NM_133642.5(LARGE1):c.-481G>T	rs537756491	0.00109
NM_133642.5(LARGE1):c.-500T>C	rs968923312	0.00001
NM_133642.5(LARGE1):c.-527C>T	rs956387343	0.00001

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