ClinVar Miner

List of variants reported as pathogenic for epidermolysis bullosa, junctional 2A, intermediate by OMIM

Included ClinVar conditions (3):

Epidermolysis bullosa, junctional 2A, intermediate
Laryngo-onycho-cutaneous syndrome; Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe
Laryngo-onycho-cutaneous syndrome; Junctional epidermolysis bullosa gravis of Herlitz; Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
LAMA3, ARG1331CYS
LAMA3, IVS35, +1, G-A
NM_198129.4(LAMA3):c.8962C>T (p.Gln2988Ter)	rs137852758

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