ClinVar Miner

List of variants in gene LAMP2 studied for cardiomyopathy

Included ClinVar conditions (522):
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Gene type:
ClinVar version:
Total variants: 111
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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.*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.*2195T>C rs13441024 0.08473
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.*2746A>G rs3827478 0.01396
NM_002294.3(LAMP2):c.*3249T>C rs41300908 0.01188
NM_002294.3(LAMP2):c.*2162G>A rs767123866 0.00966
NM_002294.3(LAMP2):c.*5048A>T rs113285013 0.00807
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.*586A>G rs41312757 0.00248
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_002294.3(LAMP2):c.*4963del rs754879365 0.00097
NM_002294.3(LAMP2):c.*853G>A rs763861761 0.00088
NM_002294.3(LAMP2):c.*3687T>C rs185627568 0.00067
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr) rs149276836 0.00045
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.*1632A>G rs755434692 0.00037
NM_002294.3(LAMP2):c.*2148A>G rs756504749 0.00031
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.*5172A>G rs778592348 0.00024
NM_002294.3(LAMP2):c.*477T>C rs750939378 0.00018
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_002294.3(LAMP2):c.*2005C>G rs200014321 0.00009
NM_002294.3(LAMP2):c.*4763A>T rs761928368 0.00009
NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys) rs752321157 0.00009
NM_002294.3(LAMP2):c.*1191A>T rs1004327482 0.00007
NM_002294.3(LAMP2):c.*2183T>C rs765214315 0.00006
NM_002294.3(LAMP2):c.*3689T>C rs975386272 0.00006
NM_002294.3(LAMP2):c.*721A>C rs887326511 0.00006
NM_002294.3(LAMP2):c.*1672C>T rs1024440041 0.00005
NM_002294.3(LAMP2):c.*2538A>C rs1057515739 0.00005
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_013995.2(LAMP2):c.-154T>C rs999307628 0.00005
NM_002294.3(LAMP2):c.1137A>G (p.Ile379Met) rs730880126 0.00004
NM_002294.3(LAMP2):c.*4858A>G rs943561186 0.00003
NM_002294.3(LAMP2):c.1083G>A (p.Lys361=) rs1334549485 0.00003
NM_002294.3(LAMP2):c.519A>G (p.Val173=) rs1060504543 0.00003
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg) rs727504953 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.214G>A (p.Val72Met) rs778193991 0.00001
NM_002294.3(LAMP2):c.959A>G (p.Tyr320Cys) rs1292531971 0.00001
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.3(LAMP2):c.*1701dup rs373005118
NM_002294.3(LAMP2):c.*2148AT[8] rs753399289
NM_002294.3(LAMP2):c.*2148AT[9] rs753399289
NM_002294.3(LAMP2):c.*2736T>A rs1057515738
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.*3677C>A rs1057515737
NM_002294.3(LAMP2):c.*653A>G rs1057515744
NM_002294.3(LAMP2):c.*692G>A rs1057515743
NM_002294.3(LAMP2):c.-103G>C rs1057515747
NM_002294.3(LAMP2):c.-26_-15dup rs1556124241
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.1020del (p.Gly341fs) rs727504597
NM_002294.3(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_002294.3(LAMP2):c.107C>G (p.Ser36Ter) rs2147287657
NM_002294.3(LAMP2):c.1135A>G (p.Ile379Val) rs869025452
NM_002294.3(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter) rs2147287624
NM_002294.3(LAMP2):c.14G>T (p.Arg5Leu) rs1921666685
NM_002294.3(LAMP2):c.183+1G>A rs727503120
NM_002294.3(LAMP2):c.183+5G>A rs730880479
NM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.183T>G (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.191del (p.Val64fs) rs397516738
NM_002294.3(LAMP2):c.313G>A (p.Ala105Thr)
NM_002294.3(LAMP2):c.35_52del (p.Ser12_Val17del) rs2147294820
NM_002294.3(LAMP2):c.380C>G (p.Pro127Arg) rs1200950486
NM_002294.3(LAMP2):c.397+6C>G rs1569371192
NM_002294.3(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_002294.3(LAMP2):c.584_588dup (p.Val197fs) rs730880492
NM_002294.3(LAMP2):c.723G>A (p.Leu241=) rs1569369647
NM_002294.3(LAMP2):c.742-16TCT[2] rs730880476
NM_002294.3(LAMP2):c.747T>C (p.Ala249=)
NM_002294.3(LAMP2):c.770A>G (p.Asn257Ser) rs1569369275
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.865-1G>C rs397516752
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.3(LAMP2):c.98_101del (p.Asn32_Leu33insTer) rs2147287662
NM_002294.3(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746
NM_002294.3(LAMP2):c.999del (p.Glu334fs) rs727504557
NM_002294.3(LAMP2):c.9C>T (p.Cys3=)
NM_013995.2(LAMP2):c.-168dup rs760941179
NM_013995.2(LAMP2):c.217dup (p.Thr73fs) rs397516739

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