ClinVar Miner

List of variants in gene LAMP2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39300
NM_002294.3(LAMP2):c.929-293T>C rs7889047 0.37204
NM_002294.2(LAMP2):c.-421T>G rs28603270 0.13168
NM_002294.3(LAMP2):c.*297A>C rs8160 0.09815
NM_002294.3(LAMP2):c.*486A>G rs5957383 0.09784
NM_002294.3(LAMP2):c.*2395A>G rs10127185 0.09686
NM_002294.3(LAMP2):c.*1314T>C rs5957381 0.09242
NM_002294.3(LAMP2):c.*3248G>A rs5957380 0.09182
NM_002294.3(LAMP2):c.*2195T>C rs13441024 0.09137
NM_002294.3(LAMP2):c.*2460A>G rs10127182 0.08629
NM_002294.3(LAMP2):c.398-110T>G rs59050206 0.08078
NM_002294.3(LAMP2):c.865-121C>T rs58622214 0.07340
NM_002294.3(LAMP2):c.928+245A>G rs73639314 0.07230
NM_002294.3(LAMP2):c.65-314G>A rs73639316 0.05296
NM_002294.3(LAMP2):c.865-221A>T rs56067154 0.05107
NM_002294.3(LAMP2):c.*1589A>G rs73612906 0.02961
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_002294.3(LAMP2):c.*205C>T rs41300191 0.02340
NM_002294.3(LAMP2):c.*2524T>C rs150119198 0.01799
NM_002294.3(LAMP2):c.*2746A>G rs3827478 0.01441
NM_002294.3(LAMP2):c.929-126G>A rs7888393 0.01266
NM_002294.3(LAMP2):c.1094-140A>G rs141348126 0.01262
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.865-242C>A rs146283621 0.00960
NM_002294.3(LAMP2):c.741+224C>T rs181256167 0.00953
NM_002294.3(LAMP2):c.1094-322G>A rs57800983 0.00828
NM_002294.3(LAMP2):c.*237C>T rs143070918 0.00627
NM_002294.3(LAMP2):c.*3459G>T rs185990694 0.00606
NM_002294.3(LAMP2):c.865-310C>T rs181144328 0.00480
NM_002294.3(LAMP2):c.929-292G>A rs185059445 0.00469
NM_002294.3(LAMP2):c.*1984G>A rs148513908 0.00423
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00396
NM_002294.3(LAMP2):c.65-58T>A rs192733755 0.00307
NM_002294.3(LAMP2):c.929-35A>T rs149208640 0.00198
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_013995.2(LAMP2):c.-138G>T rs144321444 0.00147
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00117
NM_002294.3(LAMP2):c.864+83G>A rs768677322 0.00113
NM_002294.3(LAMP2):c.-33C>T rs368403767 0.00067
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00067
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.*15T>C rs376806600 0.00042
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_002294.3(LAMP2):c.-10C>T rs201209341 0.00028
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) rs139633545 0.00026
NM_002294.3(LAMP2):c.741+11C>T rs149155417 0.00024
NM_002294.3(LAMP2):c.74G>A (p.Arg25Gln) rs750118236 0.00016
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672 0.00015
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp) rs730880478 0.00015
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.*2794T>C rs368937075 0.00011
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.769A>G (p.Asn257Asp) rs369032377 0.00009
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser) rs397516747 0.00007
NM_002294.3(LAMP2):c.929-5T>C rs375341409 0.00007
NM_002294.3(LAMP2):c.1093+2590G>A rs1014291449 0.00006
NM_002294.3(LAMP2):c.1094-4C>T rs768756537 0.00006
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser) rs766491800 0.00006
NM_002294.3(LAMP2):c.-7C>T rs762305947 0.00005
NM_002294.3(LAMP2):c.1093+2589C>T rs377303143 0.00005
NM_002294.3(LAMP2):c.771T>C (p.Asn257=) rs138435481 0.00005
NM_002294.3(LAMP2):c.929-29A>G rs773549757 0.00005
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.65-13T>A rs727503121 0.00004
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315 0.00003
NM_002294.3(LAMP2):c.204C>G (p.Asp68Glu) rs376215728 0.00003
NM_002294.3(LAMP2):c.276C>T (p.Phe92=) rs754577706 0.00003
NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys) rs730880497 0.00003
NM_002294.3(LAMP2):c.398-3T>C rs1045629648 0.00003
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala) rs138374063 0.00003
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val) rs1362738445 0.00003
NM_002294.3(LAMP2):c.64+20C>G rs1346805727 0.00003
NM_002294.3(LAMP2):c.65-12A>T rs730880474 0.00003
NM_002294.3(LAMP2):c.65-20A>T rs773064698 0.00003
NM_002294.3(LAMP2):c.999A>C (p.Lys333Asn) rs1341268966 0.00003
NM_002294.3(LAMP2):c.-39C>T rs778851681 0.00002
NM_002294.3(LAMP2):c.340G>A (p.Val114Ile) rs377652722 0.00002
NM_002294.3(LAMP2):c.515T>C (p.Leu172Pro) rs371174243 0.00002
NM_002294.3(LAMP2):c.797G>A (p.Arg266His) rs200934351 0.00002
NM_002294.3(LAMP2):c.-27C>T rs587781015 0.00001
NM_002294.3(LAMP2):c.-38G>C rs1354020682 0.00001
NM_002294.3(LAMP2):c.-42T>C rs1357782623 0.00001
NM_002294.3(LAMP2):c.1001A>G (p.Glu334Gly) rs1319752625 0.00001
NM_002294.3(LAMP2):c.1139C>T (p.Ala380Val) rs747301460 0.00001
NM_002294.3(LAMP2):c.1191T>C (p.Phe397=) rs752231323 0.00001
NM_002294.3(LAMP2):c.183T>C (p.Tyr61=) rs397516736 0.00001
NM_002294.3(LAMP2):c.253G>A (p.Gly85Ser) rs371149731 0.00001
NM_002294.3(LAMP2):c.364G>A (p.Asp122Asn) rs730880480 0.00001
NM_002294.3(LAMP2):c.380C>T (p.Pro127Leu) rs1200950486 0.00001
NM_002294.3(LAMP2):c.467T>C (p.Leu156Ser) rs1385890053 0.00001
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys) rs104894857 0.00001
NM_002294.3(LAMP2):c.572A>T (p.Lys191Ile) rs767918596 0.00001
NM_002294.3(LAMP2):c.605A>C (p.His202Pro) rs730880475 0.00001
NM_002294.3(LAMP2):c.64+16C>G rs780307352 0.00001
NM_002294.3(LAMP2):c.805A>G (p.Thr269Ala) rs1131691290 0.00001
NM_002294.3(LAMP2):c.865-9T>C rs1057522838 0.00001
NM_002294.3(LAMP2):c.972C>G (p.Pro324=) rs1229203142 0.00001
NC_000023.11:g.120469369G>A rs1016964993
NC_000023.11:g.120469521del rs60468300
NC_000023.11:g.120469521dup rs60468300
NM_002294.3(LAMP2):c.*1243A>G rs147825361
NM_002294.3(LAMP2):c.*1993_*2034del rs372028662
NM_002294.3(LAMP2):c.*2136GT[7] rs1556075606
NM_002294.3(LAMP2):c.*2147_*2148insGTATAT rs778330920
NM_002294.3(LAMP2):c.*2148AT[11] rs753399289
NM_002294.3(LAMP2):c.*2148AT[9] rs753399289
NM_002294.3(LAMP2):c.*2213TATATATACACA[1] rs200167553
NM_002294.3(LAMP2):c.*3031dup rs113549733
NM_002294.3(LAMP2):c.*3347GTTA[1] rs764018077
NM_002294.3(LAMP2):c.*33A>G rs745798436
NM_002294.3(LAMP2):c.*3459GTT[3] rs199705754
NM_002294.3(LAMP2):c.-26_-15dup rs1556124241
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.-32GTCGCCGCC[3] rs193922648
NM_002294.3(LAMP2):c.-43G>T rs2147295007
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.1040C>G (p.Thr347Ser) rs730880487
NM_002294.3(LAMP2):c.1075C>T (p.Gln359Ter) rs1057517940
NM_002294.3(LAMP2):c.1084T>C (p.Tyr362His) rs367740222
NM_002294.3(LAMP2):c.1093+17C>T rs1057521759
NM_002294.3(LAMP2):c.1093+1G>A rs727504742
NM_002294.3(LAMP2):c.1093+2230_1093+2233del rs68126940
NM_002294.3(LAMP2):c.1093+2434C>T rs2147277547
NM_002294.3(LAMP2):c.1093+2461A>G rs1202532149
NM_002294.3(LAMP2):c.1093+2462C>T
NM_002294.3(LAMP2):c.1093+2490G>A
NM_002294.3(LAMP2):c.1093+2506T>C
NM_002294.3(LAMP2):c.1093+2527C>T rs2147277471
NM_002294.3(LAMP2):c.1093+2538G>A rs1602530706
NM_002294.3(LAMP2):c.1093+2581A>G rs764949357
NM_002294.3(LAMP2):c.1093+9C>G rs371259269
NM_002294.3(LAMP2):c.1094-1G>A rs1331940434
NM_002294.3(LAMP2):c.1114GAC[1] (p.Asp373del) rs730880494
NM_002294.3(LAMP2):c.1141G>T (p.Val381Leu)
NM_002294.3(LAMP2):c.1142_1156dup (p.Val381_Leu385dup) rs2147273190
NM_002294.3(LAMP2):c.1193T>C (p.Ile398Thr) rs727504625
NM_002294.3(LAMP2):c.150C>T (p.Phe50=) rs1057521701
NM_002294.3(LAMP2):c.181del (p.Tyr61fs) rs2147287579
NM_002294.3(LAMP2):c.183+3A>T rs2147287563
NM_002294.3(LAMP2):c.183+5G>A rs730880479
NM_002294.3(LAMP2):c.184-1G>T rs1064796635
NM_002294.3(LAMP2):c.1A>G (p.Met1Val)
NM_002294.3(LAMP2):c.237T>G (p.Cys79Trp) rs2147286906
NM_002294.3(LAMP2):c.23C>G (p.Pro8Arg) rs878854484
NM_002294.3(LAMP2):c.260A>C (p.Lys87Thr) rs1556112678
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.3(LAMP2):c.316G>T (p.Ala106Ser) rs1305798857
NM_002294.3(LAMP2):c.339C>G (p.Ser113Arg) rs147369153
NM_002294.3(LAMP2):c.344C>A (p.Ser115Ter) rs950725039
NM_002294.3(LAMP2):c.379C>T (p.Pro127Ser) rs2147286737
NM_002294.3(LAMP2):c.398-4A>G rs1057523043
NM_002294.3(LAMP2):c.458G>T (p.Cys153Phe) rs2058610425
NM_002294.3(LAMP2):c.459C>G (p.Cys153Trp) rs2147283067
NM_002294.3(LAMP2):c.557-128dup rs775935754
NM_002294.3(LAMP2):c.557-251G>T rs148242561
NM_002294.3(LAMP2):c.584_588dup (p.Val197fs) rs730880492
NM_002294.3(LAMP2):c.626C>T (p.Thr209Ile)
NM_002294.3(LAMP2):c.64+2T>A rs730880490
NM_002294.3(LAMP2):c.65-1G>C rs730880496
NM_002294.3(LAMP2):c.65-3C>T rs769801659
NM_002294.3(LAMP2):c.651dup (p.Pro218fs) rs730880493
NM_002294.3(LAMP2):c.659dup (p.Gly221fs) rs1556101640
NM_002294.3(LAMP2):c.715C>G (p.Leu239Val) rs730880481
NM_002294.3(LAMP2):c.718C>T (p.Gln240Ter) rs1556101420
NM_002294.3(LAMP2):c.71T>C (p.Val24Ala) rs2520913653
NM_002294.3(LAMP2):c.741+112GTTT[5] rs368190024
NM_002294.3(LAMP2):c.742-16TCT[2] rs730880476
NM_002294.3(LAMP2):c.742-201dup rs374381929
NM_002294.3(LAMP2):c.742-7_742-5del rs779710402
NM_002294.3(LAMP2):c.773C>G (p.Thr258Arg) rs111703410
NM_002294.3(LAMP2):c.789C>T (p.Gly263=)
NM_002294.3(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_002294.3(LAMP2):c.815T>C (p.Leu272Pro) rs1569369217
NM_002294.3(LAMP2):c.854_859del (p.Val285_Phe286del)
NM_002294.3(LAMP2):c.864+1G>A rs727503119
NM_002294.3(LAMP2):c.864+1G>T rs727503119
NM_002294.3(LAMP2):c.864+2T>C rs730880485
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.865-13C>T rs760238519
NM_002294.3(LAMP2):c.865-311G>T rs185635351
NM_002294.3(LAMP2):c.865-8del rs746330494
NM_002294.3(LAMP2):c.877C>A (p.Arg293=) rs727503118
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.3(LAMP2):c.878G>A (p.Arg293Gln) rs1224940162
NM_002294.3(LAMP2):c.887T>C (p.Leu296Pro) rs730880486
NM_002294.3(LAMP2):c.8G>A (p.Cys3Tyr) rs730880489
NM_002294.3(LAMP2):c.907A>G (p.Met303Val) rs768369360
NM_002294.3(LAMP2):c.910T>C (p.Tyr304His) rs2147279498
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.3(LAMP2):c.929-2A>G rs1556092556
NM_002294.3(LAMP2):c.974del (p.Leu325fs) rs730880498
NM_002294.3(LAMP2):c.98T>A (p.Leu33Ter) rs2147287668
NM_013995.2(LAMP2):c.-135G>C rs181118176
NM_013995.2(LAMP2):c.-168del rs760941179

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