ClinVar Miner

List of variants in gene LAMP2 reported as likely pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_002294.3(LAMP2):c.864G>A (p.Val288=)
NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.3(LAMP2):c.929-1G>A rs727504262
NM_013995.2(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_013995.2(LAMP2):c.190_191del (p.Val64fs) rs1569371330
NM_013995.2(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_013995.2(LAMP2):c.65-1G>C rs730880496
NM_013995.2(LAMP2):c.795C>A (p.Cys265Ter) rs730880483

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