ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs) rs769151482
NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter) rs121912484
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000228.3(LAMB3):c.565-2A>G rs370148688
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter) rs80356683
NM_198129.3(LAMA3):c.6041del (p.Gln2014fs) rs1555731178
NM_198129.3(LAMA3):c.6230_6231AG[1] (p.Gln2077_Ser2078insTer) rs1158945258
NM_198129.3(LAMA3):c.6808C>T (p.Arg2270Ter) rs137852757
NM_198129.3(LAMA3):c.9511+1G>A rs1296034886

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