ClinVar Miner

List of variants reported as likely pathogenic for Adult junctional epidermolysis bullosa

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Total variants: 3
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NM_000494.4(COL17A1):c.2336-2A>G rs1478395810
NM_000494.4(COL17A1):c.2435-6_2440del rs797045084
NM_000494.4(COL17A1):c.3418+2del rs775244527

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