ClinVar Miner

List of variants studied for epidermolysis bullosa, junctional 2A, intermediate by Baylor Genetics

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_198129.4(LAMA3):c.6319-1G>A

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