ClinVar Miner

List of variants in gene LAMB3 reported as pathogenic for Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.565-2A>G rs370148688 0.00003
NM_000228.3(LAMB3):c.1939G>T (p.Glu647Ter) rs1666408900
NM_000228.3(LAMB3):c.823-1G>A rs778372285

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