ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
LAMA3, 1-BP DEL, 300G
NM_000227.4(LAMA3):c.1214del (p.Gln405Argfs) rs1555731178
NM_000227.4(LAMA3):c.1405_1406del (p.Ser469Terfs) rs1158945258
NM_000227.4(LAMA3):c.151dup (p.Val51Glyfs) rs80356678
NM_000227.4(LAMA3):c.1981C>T (p.Arg661Ter) rs137852757
NM_000227.4(LAMA3):c.4684+1G>A rs1296034886
NM_198129.2(LAMA3):c.6943A>T (p.Arg2315Ter) rs80356679

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