ClinVar Miner

List of variants in gene LOC130056176, POMT2 studied for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Included ClinVar conditions (3):

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 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

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_013382.7(POMT2):c.248+20C>G	rs1471456899	0.00001
NM_013382.7(POMT2):c.248+15G>T
NM_013382.7(POMT2):c.248+16G>T	rs1891826465
NM_013382.7(POMT2):c.248+18C>A
NM_013382.7(POMT2):c.248+19T>A

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