List of variants in gene LAMP2 studied for LAMP2-related disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_002294.3(LAMP2):c.1093+2514G>A	rs144140265	0.00396
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr)	rs149276836	0.00045
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala)	rs139633545	0.00026
NM_002294.3(LAMP2):c.1093+2450G>A	rs149783672	0.00015
NM_002294.3(LAMP2):c.*2794T>C	rs368937075	0.00011
NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys)	rs752321157	0.00009
NM_002294.3(LAMP2):c.-7C>T	rs762305947	0.00005
NM_002294.3(LAMP2):c.771T>C (p.Asn257=)	rs138435481	0.00005
NM_002294.3(LAMP2):c.-8G>C	rs768073560	0.00002
NM_002294.3(LAMP2):c.1191T>C (p.Phe397=)	rs752231323	0.00001
NM_002294.3(LAMP2):c.1114GAC[1] (p.Asp373del)	rs730880494
NM_002294.3(LAMP2):c.12C>T (p.Phe4=)	rs2520948387
NM_002294.3(LAMP2):c.316G>T (p.Ala106Ser)	rs1305798857
NM_002294.3(LAMP2):c.43G>C (p.Val15Leu)
NM_002294.3(LAMP2):c.579A>G (p.Lys193=)	rs2520884837
NM_002294.3(LAMP2):c.742-16TCT[2]	rs730880476
NM_002294.3(LAMP2):c.865-8del	rs746330494
NM_002294.3(LAMP2):c.929-9del	rs1338648665

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