ClinVar Miner

List of variants reported as likely pathogenic for Epidermolysis bullosa, junctional

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Total variants: 5
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HGVS dbSNP
NC_000001.11:g.209622539_209622557del
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.3(LAMB3):c.1132+5G>A rs770302956
NM_000494.4(COL17A1):c.3821_3829delinsC (p.Gly1274fs) rs1210666598
NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter) rs118203901

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