List of variants in gene LAMP2 reported by CeGaT Center for Human Genetics Tuebingen

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_002294.3(LAMP2):c.1093+2514G>A	rs144140265	0.00404
NM_002294.3(LAMP2):c.*4963del	rs754879365	0.00097
NM_002294.3(LAMP2):c.*853G>A	rs763861761	0.00088
NM_002294.3(LAMP2):c.*1413A>G	rs773379092	0.00076
NM_002294.3(LAMP2):c.*4757A>G	rs767652057	0.00040
NM_002294.3(LAMP2):c.*4961A>G	rs765371462	0.00039
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)	rs138991195	0.00039
NM_002294.3(LAMP2):c.591G>A (p.Val197=)	rs201030806	0.00014
NM_002294.3(LAMP2):c.1093+2544A>G	rs777128122	0.00009
NM_002294.3(LAMP2):c.*2794T>C	rs368937075	0.00008
NM_002294.3(LAMP2):c.*2771A>G	rs747304113	0.00004
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val)	rs397516741	0.00004
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile)	rs141574558	0.00004
NM_002294.3(LAMP2):c.929-5T>C	rs375341409	0.00004
NM_002294.3(LAMP2):c.300G>A (p.Ala100=)	rs765548221	0.00003
NM_002294.3(LAMP2):c.519A>G (p.Val173=)	rs1060504543	0.00003
NM_002294.3(LAMP2):c.340G>A (p.Val114Ile)	rs377652722	0.00002
NM_002294.3(LAMP2):c.*2752T>C	rs1212813867	0.00001
NM_002294.3(LAMP2):c.*1673G>T
NM_002294.3(LAMP2):c.-4G>C	rs200297370
NM_002294.3(LAMP2):c.1093+2503G>A
NM_002294.3(LAMP2):c.1160G>T (p.Gly387Val)
NM_002294.3(LAMP2):c.1A>T (p.Met1Leu)	rs1556124149
NM_002294.3(LAMP2):c.364G>A (p.Asp122Asn)	rs730880480
NM_002294.3(LAMP2):c.374del (p.Thr125fs)	rs1921041608
NM_002294.3(LAMP2):c.449T>A (p.Leu150His)
NM_002294.3(LAMP2):c.46C>T (p.Leu16=)
NM_002294.3(LAMP2):c.65-2A>G	rs397516743

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