ClinVar Miner

List of variants in gene LAMA3 reported as pathogenic 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

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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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_198129.4(LAMA3):c.7654C>T (p.Arg2552Ter)	rs1181742615	0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)	rs772038362	0.00001

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