ClinVar Miner

List of variants in gene LAMP2 reported as benign for lysosomal glycogen storage disease

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.*4579A>G rs42885 0.62750
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_002294.3(LAMP2):c.*5038A>G rs2748 0.28585
NM_002294.3(LAMP2):c.*1314T>C rs5957381 0.09876
NM_002294.3(LAMP2):c.*297A>C rs8160 0.09815
NM_002294.3(LAMP2):c.*3248G>A rs5957380 0.09812
NM_002294.3(LAMP2):c.*4671C>T rs1045953 0.09801
NM_002294.3(LAMP2):c.*486A>G rs5957383 0.09784
NM_002294.3(LAMP2):c.*2195T>C rs13441024 0.09721
NM_002294.3(LAMP2):c.*2395A>G rs10127185 0.09686
NM_002294.3(LAMP2):c.*2261A>G rs12395643 0.09416
NM_002294.3(LAMP2):c.*2460A>G rs10127182 0.08629
NM_002294.3(LAMP2):c.*1096T>C rs5957382 0.06824
NM_002294.3(LAMP2):c.*1071G>T rs2285548 0.03391
NM_002294.3(LAMP2):c.*1589A>G rs73612906 0.03180
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_002294.3(LAMP2):c.*205C>T rs41300191 0.02502
NM_002294.3(LAMP2):c.*2524T>C rs150119198 0.01799
NM_002294.3(LAMP2):c.*4562A>G rs142200759 0.01528
NM_002294.3(LAMP2):c.*1617C>T rs141881232 0.01521
NM_002294.3(LAMP2):c.*2575G>C rs77126790 0.01447
NM_002294.3(LAMP2):c.*2746A>G rs3827478 0.01396
NM_002294.3(LAMP2):c.*2518A>G rs56158197 0.01287
NM_002294.3(LAMP2):c.*2162G>A rs767123866 0.01199
NM_002294.3(LAMP2):c.*3249T>C rs41300908 0.01188
NM_002294.3(LAMP2):c.*5048A>T rs113285013 0.00807
NM_002294.3(LAMP2):c.*3459G>T rs185990694 0.00648
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_002294.3(LAMP2):c.*1356C>G rs188897063 0.00249
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_002294.3(LAMP2):c.*3494A>G rs180681121 0.00187
NM_002294.3(LAMP2):c.*3583A>G rs144504054 0.00178
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_002294.3(LAMP2):c.*3687T>C rs185627568 0.00067
NM_002294.3(LAMP2):c.-33C>T rs368403767 0.00067
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_002294.3(LAMP2):c.504C>T (p.Tyr168=) rs150520869 0.00060
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.*2148A>G rs756504749 0.00024
NM_002294.3(LAMP2):c.741+11C>T rs149155417 0.00024
NM_002294.3(LAMP2):c.*477T>C rs750939378 0.00018
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672 0.00015
NM_002294.3(LAMP2):c.*3452T>C rs752469856 0.00014
NM_002294.3(LAMP2):c.1093+2478A>G rs140936359 0.00014
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_002294.3(LAMP2):c.1162G>T (p.Val388Leu) rs372906565 0.00012
NM_002294.3(LAMP2):c.1093+2544A>G rs777128122 0.00009
NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys) rs752321157 0.00009
NM_002294.3(LAMP2):c.*2794T>C rs368937075 0.00008
NM_002294.3(LAMP2):c.*2005C>G rs200014321 0.00007
NM_002294.3(LAMP2):c.*2183T>C rs765214315 0.00006
NM_002294.3(LAMP2):c.1094-4C>T rs768756537 0.00006
NM_002294.3(LAMP2):c.158G>A (p.Arg53His) rs397516735 0.00005
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val) rs397516741 0.00004
NM_002294.3(LAMP2):c.929-5T>C rs375341409 0.00004
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315 0.00003
NM_002294.3(LAMP2):c.1094-16C>T rs772976829 0.00003
NM_002294.3(LAMP2):c.300G>A (p.Ala100=) rs765548221 0.00003
NM_002294.3(LAMP2):c.750A>C (p.Ser250=) rs765836082 0.00003
NM_002294.3(LAMP2):c.1125C>T (p.Phe375=) rs746288560 0.00002
NM_002294.3(LAMP2):c.557-12C>T rs756269189 0.00002
NM_002294.3(LAMP2):c.74G>A (p.Arg25Gln) rs750118236 0.00002
NM_002294.3(LAMP2):c.797G>A (p.Arg266His) rs200934351 0.00002
NM_002294.3(LAMP2):c.1191T>C (p.Phe397=) rs752231323 0.00001
NM_002294.3(LAMP2):c.*1243A>G rs147825361
NM_002294.3(LAMP2):c.*33A>G rs745798436
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.1089T>C (p.Ser363=)
NM_002294.3(LAMP2):c.1176G>A (p.Val392=)
NM_002294.3(LAMP2):c.742-16TCT[2] rs730880476
NM_002294.3(LAMP2):c.742-7_742-5del rs779710402
NM_002294.3(LAMP2):c.877C>A (p.Arg293=) rs727503118
NM_002294.3(LAMP2):c.929-9del rs1338648665

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