List of variants in gene LAMP2 reported as likely benign by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr)	rs149276836	0.00045
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)	rs138991195	0.00039
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.591G>A (p.Val197=)	rs201030806	0.00014
NM_002294.3(LAMP2):c.42C>T (p.Leu14=)	rs727503122	0.00009
NM_002294.3(LAMP2):c.264A>T (p.Ile88=)	rs779524035	0.00005
NM_002294.3(LAMP2):c.771T>C (p.Asn257=)	rs138435481	0.00005
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile)	rs141574558	0.00004
NM_002294.3(LAMP2):c.1083G>A (p.Lys361=)	rs1334549485	0.00003
NM_002294.3(LAMP2):c.300G>A (p.Ala100=)	rs765548221	0.00003
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala)	rs138374063	0.00003
NM_002294.3(LAMP2):c.519A>G (p.Val173=)	rs1060504543	0.00003
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val)	rs1362738445	0.00003
NM_002294.3(LAMP2):c.750A>C (p.Ser250=)	rs765836082	0.00003
NM_002294.3(LAMP2):c.1116C>T (p.Asp372=)	rs749338632	0.00002
NM_002294.3(LAMP2):c.340G>A (p.Val114Ile)	rs377652722	0.00002
NM_002294.3(LAMP2):c.960C>T (p.Tyr320=)	rs371959861	0.00002
NM_002294.3(LAMP2):c.1080A>G (p.Gly360=)	rs1476303419	0.00001
NM_002294.3(LAMP2):c.1140G>A (p.Ala380=)	rs1029569080	0.00001
NM_002294.3(LAMP2):c.1191T>C (p.Phe397=)	rs752231323	0.00001
NM_002294.3(LAMP2):c.30G>A (p.Pro10=)	rs11540224	0.00001
NM_002294.3(LAMP2):c.605A>C (p.His202Pro)	rs730880475	0.00001
NM_002294.3(LAMP2):c.972C>G (p.Pro324=)	rs1229203142	0.00001
NM_002294.3(LAMP2):c.1089T>C (p.Ser363=)
NM_002294.3(LAMP2):c.1095T>C (p.Ala365=)
NM_002294.3(LAMP2):c.1227A>G (p.Gln409=)
NM_002294.3(LAMP2):c.150C>T (p.Phe50=)	rs1057521701
NM_002294.3(LAMP2):c.300G>C (p.Ala100=)	rs765548221
NM_002294.3(LAMP2):c.300G>T (p.Ala100=)	rs765548221
NM_002294.3(LAMP2):c.42C>G (p.Leu14=)	rs727503122
NM_002294.3(LAMP2):c.45T>G (p.Val15=)
NM_002294.3(LAMP2):c.576C>T (p.Asp192=)	rs1569369724
NM_002294.3(LAMP2):c.742-7_742-5del	rs779710402
NM_002294.3(LAMP2):c.877C>A (p.Arg293=)	rs727503118

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