ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
LAMA3, 1-BP DEL, 300G
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.2806C>T (p.Gln936Ter) rs121912485
NM_000228.3(LAMB3):c.496C>T (p.Gln166Ter) rs121912483
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter) rs118203899
NM_005562.3(LAMC2):c.1067-1G>A rs1558092501
NM_005562.3(LAMC2):c.1659C>A (p.Cys553Ter) rs118203900
NM_005562.3(LAMC2):c.2137_2143del (p.Gln713fs) rs1558095794
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter) rs80356683
NM_198129.3(LAMA3):c.6808C>T (p.Arg2270Ter) rs137852757

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