ClinVar Miner

List of variants in gene LAMP2 reported as pathogenic for not provided

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Total variants: 17
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HGVS dbSNP
NM_001122606.1(LAMP2):c.294G>A (p.Trp98Ter) rs876657696
NM_001122606.1(LAMP2):c.579_586delAACTTCAA (p.Lys193Asnfs) rs398123685
NM_002294.2(LAMP2):c.1093+1G>A rs727504742
NM_002294.2(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.2(LAMP2):c.64+2T>A rs730880490
NM_002294.2(LAMP2):c.65-1G>C rs730880496
NM_002294.2(LAMP2):c.651dupA (p.Pro218Thrfs) rs730880493
NM_002294.2(LAMP2):c.718C>T (p.Gln240Ter) rs1556101420
NM_002294.2(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_002294.2(LAMP2):c.864+1G>A rs727503119
NM_002294.2(LAMP2):c.864+1G>T rs727503119
NM_002294.2(LAMP2):c.864+2T>C rs730880485
NM_002294.2(LAMP2):c.864+3_864+6delGAGT rs397516751
NM_002294.2(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.2(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.2(LAMP2):c.929-2A>G rs1556092556
NM_002294.2(LAMP2):c.974delT (p.Leu325Argfs) rs730880498

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