List of variants in gene LAMP2 reported as pathogenic for Cardiovascular phenotype

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_002294.3(LAMP2):c.1075C>T (p.Gln359Ter)	rs1057517940
NM_002294.3(LAMP2):c.109G>T (p.Glu37Ter)
NM_002294.3(LAMP2):c.371_375del (p.Thr124fs)
NM_002294.3(LAMP2):c.64+4delinsGT	rs1556123906
NM_002294.3(LAMP2):c.696T>A (p.Cys232Ter)	rs1556101523
NM_002294.3(LAMP2):c.864+3_864+6del	rs397516751
NM_002294.3(LAMP2):c.911_914del (p.Tyr304fs)
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)	rs104894858

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