ClinVar Miner

List of variants in gene LAMC2, LOC126805948 studied for generalized junctional epidermolysis bullosa non-Herlitz type

Included ClinVar conditions (7):

Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type
Epithelial recurrent erosion dystrophy; Junctional epidermolysis bullosa, non-Herlitz type; Late-onset junctional epidermolysis bullosa
Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa simplex 1C, localized; Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa with pyloric atresia; Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, non-Herlitz type
Laryngo-onycho-cutaneous syndrome; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_005562.3(LAMC2):c.-6C>A	rs684527	0.24932
NM_005562.3(LAMC2):c.-89A>G	rs2276542	0.17959

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