ClinVar Miner

List of variants reported for Junctional epidermolysis bullosa gravis of Herlitz by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter) rs747916314 0.00003
NM_000228.3(LAMB3):c.1594C>T (p.Arg532Ter) rs757145297 0.00001
NM_000228.3(LAMB3):c.2557-2A>C rs1666247177 0.00001
NM_000228.3(LAMB3):c.1A>T (p.Met1Leu) rs2102467762
NM_000228.3(LAMB3):c.2362_2372del (p.Cys788fs) rs1375506940
NM_000228.3(LAMB3):c.428G>A (p.Trp143Ter) rs2102438650
NM_005562.3(LAMC2):c.1904C>G (p.Ser635Ter) rs2526088461
NM_005562.3(LAMC2):c.195C>A (p.Cys65Ter) rs2525976672
NM_198129.4(LAMA3):c.5613+1G>A rs2511358161
NM_198129.4(LAMA3):c.8576+1G>A rs1555744805

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