ClinVar Miner

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

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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
NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter)	rs137852757	0.00001
NM_198129.4(LAMA3):c.7204C>T (p.Arg2402Ter)	rs777713989	0.00001
NM_198129.4(LAMA3):c.5049del (p.Cys1684fs)	rs752030611

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