ClinVar Miner

List of variants in gene LAMA3 reported as pathogenic

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Total variants: 17
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HGVS dbSNP
LAMA3, 1-BP DEL, 300G
NM_000227.4(LAMA3):c.-8160T>G rs765943112
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.189C>A (p.Tyr63Ter) rs1169182678
NM_000227.4(LAMA3):c.1981C>T (p.Arg661Ter) rs137852757
NM_000227.4(LAMA3):c.2248C>T (p.Gln750Ter) rs1555735252
NM_000227.4(LAMA3):c.272C>G (p.Ser91Ter) rs754323928
NM_000227.4(LAMA3):c.3609+1G>A rs886039412
NM_000227.4(LAMA3):c.3881+1G>A rs754558574
NM_000227.4(LAMA3):c.4114C>T (p.Gln1372Ter) rs772038362
NM_000227.4(LAMA3):c.4684+1G>A rs1296034886
NM_198129.2(LAMA3):c.6943A>T (p.Arg2315Ter) rs80356679
NM_198129.2(LAMA3):c.7654C>T (p.Arg2552Ter) rs1181742615
NM_198129.2(LAMA3):c.8644delC (p.Arg2882Glyfs) rs1555745215
NM_198129.2(LAMA3):c.8962C>T (p.Gln2988Ter) rs137852758

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