ClinVar Miner

List of variants in gene LAMC2 reported as pathogenic for Junctional epidermolysis bullosa gravis of Herlitz

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Total variants: 5
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HGVS dbSNP
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

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