ClinVar Miner

List of variants in gene LAMP2 reported as pathogenic by Invitae

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Total variants: 15
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HGVS dbSNP
NC_000023.10:g.(?_119562319)_(119603044_?)del
NM_002294.2(LAMP2):c.1013C>G (p.Ser338Ter) rs1060502305
NM_002294.2(LAMP2):c.137G>A (p.Trp46Ter) rs1569371591
NM_002294.2(LAMP2):c.183+1G>A rs727503120
NM_002294.2(LAMP2):c.415_469dup (p.Ser157Ter) rs1569369940
NM_002294.2(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_002294.2(LAMP2):c.546_548delinsTA (p.Ser183fs) rs1060502302
NM_002294.2(LAMP2):c.696T>A (p.Cys232Ter) rs1556101523
NM_002294.2(LAMP2):c.843T>G (p.Tyr281Ter) rs1569369194
NM_002294.2(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.2(LAMP2):c.962G>A (p.Trp321Ter) rs1060502306
NM_013995.2(LAMP2):c.205_218del (p.His69fs)
NM_013995.2(LAMP2):c.788del (p.Gly263fs) rs1060502303
NM_013995.2(LAMP2):c.864+3_864+6del rs397516751
NM_013995.2(LAMP2):c.973dup (p.Leu325fs) rs1556092459

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