ClinVar Miner

List of variants in gene LAMA3 reported as pathogenic for Junctional epidermolysis bullosa gravis of Herlitz

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Total variants: 8
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LAMA3, 1-BP DEL, 300G
NM_000227.5(LAMA3):c.1214del (p.Gln405fs) rs1555731178
NM_000227.5(LAMA3):c.1403_1404AG[1] (p.Gln468_Ser469insTer) rs1158945258
NM_000227.5(LAMA3):c.151dup (p.Val51fs) rs80356678
NM_000227.5(LAMA3):c.1981C>T (p.Arg661Ter) rs137852757
NM_000227.5(LAMA3):c.2116A>T (p.Arg706Ter) rs80356679
NM_000227.5(LAMA3):c.3001C>T (p.Arg1001Ter) rs768415785
NM_198129.3(LAMA3):c.9511+1G>A rs1296034886

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