ClinVar Miner

List of variants reported as pathogenic for Junctional epidermolysis bullosa gravis of Herlitz by GeneReviews

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Total variants: 7
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NM_000228.2(LAMB3):c.957_958ins77 (p.?)
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) rs80356681
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter) rs80356683
NM_198129.3(LAMA3):c.4998+1534dup rs80356678
NM_198129.3(LAMA3):c.6943A>T (p.Arg2315Ter) rs80356679

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