ClinVar Miner

List of variants studied for Danon disease by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 426
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
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.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.741+11C>T rs149155417 0.00024
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.1093+2532G>A rs730880488 0.00013
NM_002294.3(LAMP2):c.1093+2485T>C rs1301008847 0.00012
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.42C>T (p.Leu14=) rs727503122 0.00009
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp) rs369032377 0.00009
NM_002294.3(LAMP2):c.515T>C (p.Leu172Pro) rs371174243 0.00007
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser) rs397516747 0.00007
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.158G>A (p.Arg53His) rs397516735 0.00005
NM_002294.3(LAMP2):c.264A>T (p.Ile88=) rs779524035 0.00005
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_002294.3(LAMP2):c.771T>C (p.Asn257=) rs138435481 0.00005
NM_002294.3(LAMP2):c.1091C>T (p.Thr364Ile) rs183781327 0.00004
NM_002294.3(LAMP2):c.1093+9C>T rs371259269 0.00004
NM_002294.3(LAMP2):c.1137A>G (p.Ile379Met) rs730880126 0.00004
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val) rs397516741 0.00004
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu) rs769378984 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.928+6C>T rs769837038 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.1083G>A (p.Lys361=) rs1334549485 0.00003
NM_002294.3(LAMP2):c.1094-16C>T rs772976829 0.00003
NM_002294.3(LAMP2):c.1126C>A (p.Leu376Ile) rs1006753991 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.300G>A (p.Ala100=) rs765548221 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.519A>G (p.Val173=) rs1060504543 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.640C>A (p.Pro214Thr) rs776101722 0.00003
NM_002294.3(LAMP2):c.65-20A>T rs773064698 0.00003
NM_002294.3(LAMP2):c.750A>C (p.Ser250=) rs765836082 0.00003
NM_002294.3(LAMP2):c.999A>C (p.Lys333Asn) rs1341268966 0.00003
NM_002294.3(LAMP2):c.1078G>A (p.Gly360Arg) rs781134467 0.00002
NM_002294.3(LAMP2):c.1094-10C>T rs1278507301 0.00002
NM_002294.3(LAMP2):c.1116C>T (p.Asp372=) rs749338632 0.00002
NM_002294.3(LAMP2):c.1125C>T (p.Phe375=) rs746288560 0.00002
NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala) rs2058522449 0.00002
NM_002294.3(LAMP2):c.183T>C (p.Tyr61=) rs397516736 0.00002
NM_002294.3(LAMP2):c.184-19A>G rs1255756648 0.00002
NM_002294.3(LAMP2):c.232A>G (p.Ile78Val) rs748676358 0.00002
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg) rs727504953 0.00002
NM_002294.3(LAMP2):c.284G>T (p.Gly95Val) rs755790073 0.00002
NM_002294.3(LAMP2):c.340G>A (p.Val114Ile) rs377652722 0.00002
NM_002294.3(LAMP2):c.453T>C (p.Phe151=) rs200348335 0.00002
NM_002294.3(LAMP2):c.557-12C>T rs756269189 0.00002
NM_002294.3(LAMP2):c.64+6T>C rs1921660826 0.00002
NM_002294.3(LAMP2):c.74G>A (p.Arg25Gln) rs750118236 0.00002
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr) rs778577575 0.00002
NM_002294.3(LAMP2):c.797G>A (p.Arg266His) rs200934351 0.00002
NM_002294.3(LAMP2):c.929-9T>C rs978513368 0.00002
NM_002294.3(LAMP2):c.960C>T (p.Tyr320=) rs371959861 0.00002
NM_002294.3(LAMP2):c.977G>C (p.Gly326Ala) rs991396612 0.00002
NM_002294.3(LAMP2):c.1001A>G (p.Glu334Gly) rs1319752625 0.00001
NM_002294.3(LAMP2):c.1006A>T (p.Thr336Ser) rs1343337245 0.00001
NM_002294.3(LAMP2):c.1067A>G (p.Asn356Ser) rs775416221 0.00001
NM_002294.3(LAMP2):c.1068T>C (p.Asn356=) rs769643748 0.00001
NM_002294.3(LAMP2):c.1069G>A (p.Val357Met) rs886038907 0.00001
NM_002294.3(LAMP2):c.1080A>G (p.Gly360=) rs1476303419 0.00001
NM_002294.3(LAMP2):c.10T>C (p.Phe4Leu) rs1375151119 0.00001
NM_002294.3(LAMP2):c.1139C>T (p.Ala380Val) rs747301460 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.178A>G (p.Thr60Ala) rs1207512652 0.00001
NM_002294.3(LAMP2):c.183+9A>G rs753577843 0.00001
NM_002294.3(LAMP2):c.188C>T (p.Thr63Ile) rs1358581771 0.00001
NM_002294.3(LAMP2):c.205C>T (p.His69Tyr) rs776875696 0.00001
NM_002294.3(LAMP2):c.209G>T (p.Gly70Val) rs1340367353 0.00001
NM_002294.3(LAMP2):c.214G>A (p.Val72Met) rs778193991 0.00001
NM_002294.3(LAMP2):c.23C>T (p.Pro8Leu) rs878854484 0.00001
NM_002294.3(LAMP2):c.253G>A (p.Gly85Ser) rs371149731 0.00001
NM_002294.3(LAMP2):c.30G>A (p.Pro10=) rs11540224 0.00001
NM_002294.3(LAMP2):c.373A>G (p.Thr125Ala) rs748494547 0.00001
NM_002294.3(LAMP2):c.376T>C (p.Phe126Leu) rs1921041200 0.00001
NM_002294.3(LAMP2):c.397+8T>A rs1257675921 0.00001
NM_002294.3(LAMP2):c.415G>A (p.Glu139Lys) rs373007615 0.00001
NM_002294.3(LAMP2):c.461A>G (p.Asn154Ser) rs773525538 0.00001
NM_002294.3(LAMP2):c.462T>C (p.Asn154=) rs772164739 0.00001
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys) rs104894857 0.00001
NM_002294.3(LAMP2):c.556+13T>A rs1380200946 0.00001
NM_002294.3(LAMP2):c.556+14A>G rs1180149958 0.00001
NM_002294.3(LAMP2):c.556+17T>G rs1056255642 0.00001
NM_002294.3(LAMP2):c.556+20C>G rs1253220845 0.00001
NM_002294.3(LAMP2):c.566G>A (p.Cys189Tyr) rs750457485 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.611C>T (p.Thr204Ile) rs1459886510 0.00001
NM_002294.3(LAMP2):c.697C>G (p.Leu233Val) rs772577020 0.00001
NM_002294.3(LAMP2):c.709A>G (p.Met237Val) rs746678211 0.00001
NM_002294.3(LAMP2):c.741+10T>C rs1339351790 0.00001
NM_002294.3(LAMP2):c.768C>T (p.Pro256=) rs772901542 0.00001
NM_002294.3(LAMP2):c.773C>T (p.Thr258Ile) rs111703410 0.00001
NM_002294.3(LAMP2):c.805A>G (p.Thr269Ala) rs1131691290 0.00001
NM_002294.3(LAMP2):c.885T>C (p.Tyr295=) rs771546093 0.00001
NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn) rs1271107737 0.00001
NM_002294.3(LAMP2):c.959A>G (p.Tyr320Cys) rs1292531971 0.00001
NM_002294.3(LAMP2):c.972C>G (p.Pro324=) rs1229203142 0.00001
NM_002294.3(LAMP2):c.980G>T (p.Ser327Ile) rs960241982 0.00001
NC_000023.10:g.(?_118986730)_(119603030_?)dup
NC_000023.10:g.(?_119565168)_(119603034_?)del
NC_000023.10:g.(?_119565178)_(119565337_?)dup
NC_000023.10:g.(?_119565178)_(119575769_?)dup
NC_000023.10:g.(?_119565178)_(119576537_?)del
NC_000023.10:g.(?_119565178)_(119581900_?)dup
NC_000023.10:g.(?_119565178)_(119603024_?)del
NC_000023.10:g.(?_119575565)_(119576537_?)del
NC_000023.10:g.(?_119575565)_(119660731_?)dup
NC_000023.10:g.(?_119576434)_(119603024_?)del
NC_000023.10:g.(?_119580140)_(119580302_?)del
NC_000023.10:g.(?_119581751)_(119583728_?)del
NC_000023.10:g.(?_119589192)_(119589445_?)dup
NC_000023.10:g.(?_119602941)_(119603024_?)del
NC_000023.10:g.(?_119602955)_(119603030_?)dup
NC_000023.11:g.(?_120428464)_(120469189_?)del
NC_000023.11:g.(?_120431313)_(120469179_?)dup
NC_000023.11:g.(?_120431313)_(120470223_?)del
NC_000023.11:g.(?_120441710)_(120449148_?)del
NM_002294.3(LAMP2):c.1002G>A (p.Glu334=)
NM_002294.3(LAMP2):c.1009G>C (p.Val337Leu)
NM_002294.3(LAMP2):c.1013C>G (p.Ser338Ter) rs1060502305
NM_002294.3(LAMP2):c.1015G>C (p.Val339Leu) rs1602532154
NM_002294.3(LAMP2):c.1030C>G (p.Gln344Glu)
NM_002294.3(LAMP2):c.1033A>G (p.Ile345Val)
NM_002294.3(LAMP2):c.1037del (p.Asn346fs) rs2058573264
NM_002294.3(LAMP2):c.1040C>G (p.Thr347Ser) rs730880487
NM_002294.3(LAMP2):c.1041del (p.Phe348fs) rs2147278864
NM_002294.3(LAMP2):c.1054G>A (p.Val352Ile)
NM_002294.3(LAMP2):c.1057C>T (p.Gln353Ter) rs2147278858
NM_002294.3(LAMP2):c.1082del (p.Lys361fs) rs1436664364
NM_002294.3(LAMP2):c.1084T>C (p.Tyr362His)
NM_002294.3(LAMP2):c.1089T>C (p.Ser363=)
NM_002294.3(LAMP2):c.1093+10A>G
NM_002294.3(LAMP2):c.1093+11A>G
NM_002294.3(LAMP2):c.1093+14A>T rs2147278803
NM_002294.3(LAMP2):c.1093+1G>A rs727504742
NM_002294.3(LAMP2):c.1093+2440_1093+2441del rs2147277541
NM_002294.3(LAMP2):c.1093+2469C>A rs770877964
NM_002294.3(LAMP2):c.1093+2524T>C rs1602530731
NM_002294.3(LAMP2):c.1093+2532G>T rs730880488
NM_002294.3(LAMP2):c.1093+5G>A
NM_002294.3(LAMP2):c.1093+7A>G
NM_002294.3(LAMP2):c.1093+9C>G rs371259269
NM_002294.3(LAMP2):c.1094-19G>A
NM_002294.3(LAMP2):c.1094-19G>T rs1353282320
NM_002294.3(LAMP2):c.1094-1G>C rs1331940434
NM_002294.3(LAMP2):c.1094-2A>G rs2147273254
NM_002294.3(LAMP2):c.1094-9C>T rs2147273257
NM_002294.3(LAMP2):c.1103G>A (p.Cys368Tyr)
NM_002294.3(LAMP2):c.1114GAC[1] (p.Asp373del) rs730880494
NM_002294.3(LAMP2):c.1118A>T (p.Asp373Val) rs769995100
NM_002294.3(LAMP2):c.1123T>C (p.Phe375Leu) rs2058522629
NM_002294.3(LAMP2):c.1127T>C (p.Leu376Pro) rs2058522581
NM_002294.3(LAMP2):c.1134C>T (p.Pro378=) rs2147273218
NM_002294.3(LAMP2):c.1140G>T (p.Ala380=) rs1029569080
NM_002294.3(LAMP2):c.1143G>A (p.Val381=) rs2147273199
NM_002294.3(LAMP2):c.1152C>T (p.Ala384=) rs2147273194
NM_002294.3(LAMP2):c.1175T>C (p.Val392Ala)
NM_002294.3(LAMP2):c.1193T>C (p.Ile398Thr) rs727504625
NM_002294.3(LAMP2):c.1196G>C (p.Gly399Ala)
NM_002294.3(LAMP2):c.1204C>A (p.His402Asn) rs1418868953
NM_002294.3(LAMP2):c.1204C>T (p.His402Tyr)
NM_002294.3(LAMP2):c.1205A>G (p.His402Arg) rs2058522237
NM_002294.3(LAMP2):c.120T>C (p.Thr40=)
NM_002294.3(LAMP2):c.1213G>A (p.Ala405Thr) rs1556078130
NM_002294.3(LAMP2):c.1224G>A (p.Glu408=)
NM_002294.3(LAMP2):c.123C>A (p.Cys41Ter)
NM_002294.3(LAMP2):c.124del (p.Leu42fs) rs2147287645
NM_002294.3(LAMP2):c.129T>A (p.Tyr43Ter)
NM_002294.3(LAMP2):c.137G>A (p.Trp46Ter) rs1569371591
NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter) rs2147287624
NM_002294.3(LAMP2):c.13C>T (p.Arg5Cys) rs2147294900
NM_002294.3(LAMP2):c.141G>A (p.Gln47=)
NM_002294.3(LAMP2):c.14G>T (p.Arg5Leu) rs1921666685
NM_002294.3(LAMP2):c.150C>T (p.Phe50=) rs1057521701
NM_002294.3(LAMP2):c.152_153del (p.Thr51fs)
NM_002294.3(LAMP2):c.156_157delinsTT (p.Arg53Cys) rs1556114013
NM_002294.3(LAMP2):c.158G>T (p.Arg53Leu)
NM_002294.3(LAMP2):c.166A>G (p.Thr56Ala) rs2147287602
NM_002294.3(LAMP2):c.183+17A>G rs1052902953
NM_002294.3(LAMP2):c.183+1G>A rs727503120
NM_002294.3(LAMP2):c.183+2T>C rs2147287565
NM_002294.3(LAMP2):c.183+8T>C rs997912625
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.183_183+4del
NM_002294.3(LAMP2):c.184-11A>G rs2147286997
NM_002294.3(LAMP2):c.184-18A>G
NM_002294.3(LAMP2):c.184-9T>G rs774218764
NM_002294.3(LAMP2):c.190_191del (p.Val64fs) rs1569371330
NM_002294.3(LAMP2):c.198_207del (p.Ile66fs)
NM_002294.3(LAMP2):c.199T>C (p.Ser67Pro) rs2147286966
NM_002294.3(LAMP2):c.1A>C (p.Met1Leu) rs1556124149
NM_002294.3(LAMP2):c.200C>T (p.Ser67Leu)
NM_002294.3(LAMP2):c.204C>T (p.Asp68=) rs376215728
NM_002294.3(LAMP2):c.205_218del (p.His69fs) rs1602540152
NM_002294.3(LAMP2):c.207T>C (p.His69=)
NM_002294.3(LAMP2):c.211A>G (p.Thr71Ala)
NM_002294.3(LAMP2):c.212C>G (p.Thr71Ser)
NM_002294.3(LAMP2):c.212C>T (p.Thr71Ile)
NM_002294.3(LAMP2):c.219A>G (p.Thr73=) rs1921054102
NM_002294.3(LAMP2):c.222T>A (p.Tyr74Ter)
NM_002294.3(LAMP2):c.235_243delinsGTGG (p.Cys79fs) rs1921053197
NM_002294.3(LAMP2):c.251A>G (p.Asn84Ser) rs2147286887
NM_002294.3(LAMP2):c.25G>C (p.Val9Leu) rs1921665698
NM_002294.3(LAMP2):c.260A>C (p.Lys87Thr) rs1556112678
NM_002294.3(LAMP2):c.261A>G (p.Lys87=)
NM_002294.3(LAMP2):c.263T>C (p.Ile88Thr) rs1569371283
NM_002294.3(LAMP2):c.264dup (p.Ala89fs)
NM_002294.3(LAMP2):c.280C>G (p.Pro94Ala) rs2147286839
NM_002294.3(LAMP2):c.281C>T (p.Pro94Leu)
NM_002294.3(LAMP2):c.286T>C (p.Phe96Leu) rs1421127800
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
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.30G>C (p.Pro10=)
NM_002294.3(LAMP2):c.313G>A (p.Ala105Thr)
NM_002294.3(LAMP2):c.316G>A (p.Ala106Thr) rs1305798857
NM_002294.3(LAMP2):c.316G>T (p.Ala106Ser) rs1305798857
NM_002294.3(LAMP2):c.327T>C (p.Tyr109=) rs1397410765
NM_002294.3(LAMP2):c.331A>G (p.Ile111Val) rs762218821
NM_002294.3(LAMP2):c.333T>C (p.Ile111=) rs397516742
NM_002294.3(LAMP2):c.334G>A (p.Asp112Asn)
NM_002294.3(LAMP2):c.339C>G (p.Ser113Arg) rs147369153
NM_002294.3(LAMP2):c.344C>T (p.Ser115Leu)
NM_002294.3(LAMP2):c.34dup (p.Ser12fs) rs1921663802
NM_002294.3(LAMP2):c.354C>T (p.Tyr118=) rs1602539967
NM_002294.3(LAMP2):c.358A>C (p.Thr120Pro)
NM_002294.3(LAMP2):c.364G>A (p.Asp122Asn) rs730880480
NM_002294.3(LAMP2):c.370ACA[1] (p.Thr125del) rs760602347
NM_002294.3(LAMP2):c.372A>G (p.Thr124=)
NM_002294.3(LAMP2):c.380C>G (p.Pro127Arg) rs1200950486
NM_002294.3(LAMP2):c.380C>T (p.Pro127Leu) rs1200950486
NM_002294.3(LAMP2):c.382G>T (p.Asp128Tyr)
NM_002294.3(LAMP2):c.387T>C (p.Ala129=)
NM_002294.3(LAMP2):c.391del (p.Asp131fs) rs2147286730
NM_002294.3(LAMP2):c.393T>C (p.Asp131=)
NM_002294.3(LAMP2):c.397+16del
NM_002294.3(LAMP2):c.397+19T>C
NM_002294.3(LAMP2):c.398-14A>G
NM_002294.3(LAMP2):c.398G>A (p.Gly133Glu) rs2147283120
NM_002294.3(LAMP2):c.409G>C (p.Val137Leu) rs2147283117
NM_002294.3(LAMP2):c.415_469dup (p.Ser157Ter) rs1569369940
NM_002294.3(LAMP2):c.416A>T (p.Glu139Val) rs1602536486
NM_002294.3(LAMP2):c.424G>C (p.Ala142Pro) rs2058610678
NM_002294.3(LAMP2):c.425C>T (p.Ala142Val)
NM_002294.3(LAMP2):c.426C>T (p.Ala142=) rs2147283103
NM_002294.3(LAMP2):c.429C>T (p.Ile143=) rs1602536478
NM_002294.3(LAMP2):c.42C>G (p.Leu14=) rs727503122
NM_002294.3(LAMP2):c.450T>C (p.Leu150=) rs2147283088
NM_002294.3(LAMP2):c.455G>A (p.Arg152Lys)
NM_002294.3(LAMP2):c.458G>A (p.Cys153Tyr) rs2058610425
NM_002294.3(LAMP2):c.458G>T (p.Cys153Phe) rs2058610425
NM_002294.3(LAMP2):c.45T>A (p.Val15=)
NM_002294.3(LAMP2):c.463A>G (p.Ser155Gly)
NM_002294.3(LAMP2):c.465T>C (p.Ser155=)
NM_002294.3(LAMP2):c.467T>C (p.Leu156Ser) rs1385890053
NM_002294.3(LAMP2):c.467T>G (p.Leu156Ter) rs1385890053
NM_002294.3(LAMP2):c.490G>A (p.Val164Ile)
NM_002294.3(LAMP2):c.49G>A (p.Val17Ile) rs777718603
NM_002294.3(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_002294.3(LAMP2):c.52T>C (p.Cys18Arg)
NM_002294.3(LAMP2):c.533A>C (p.Gln178Pro) rs775432228
NM_002294.3(LAMP2):c.533A>G (p.Gln178Arg) rs775432228
NM_002294.3(LAMP2):c.546G>T (p.Val182=) rs2147282968
NM_002294.3(LAMP2):c.546_548delinsTA (p.Ser183fs) rs1060502302
NM_002294.3(LAMP2):c.54C>A (p.Cys18Ter) rs2147294814
NM_002294.3(LAMP2):c.554A>G (p.Asn185Ser) rs1207197859
NM_002294.3(LAMP2):c.556+10G>A
NM_002294.3(LAMP2):c.557-10C>G
NM_002294.3(LAMP2):c.557-11G>A
NM_002294.3(LAMP2):c.557-20T>A rs2147282562
NM_002294.3(LAMP2):c.562C>T (p.Leu188=)
NM_002294.3(LAMP2):c.565del (p.Cys189fs)
NM_002294.3(LAMP2):c.571A>G (p.Lys191Glu) rs2058605695
NM_002294.3(LAMP2):c.576C>T (p.Asp192=) rs1569369724
NM_002294.3(LAMP2):c.579A>G (p.Lys193=)
NM_002294.3(LAMP2):c.581C>A (p.Thr194Asn) rs1033442580
NM_002294.3(LAMP2):c.581C>G (p.Thr194Ser)
NM_002294.3(LAMP2):c.581C>T (p.Thr194Ile)
NM_002294.3(LAMP2):c.582T>C (p.Thr194=) rs1602535931
NM_002294.3(LAMP2):c.586A>G (p.Thr196Ala)
NM_002294.3(LAMP2):c.589G>A (p.Val197Met)
NM_002294.3(LAMP2):c.589G>C (p.Val197Leu) rs1360458497
NM_002294.3(LAMP2):c.59T>G (p.Val20Gly) rs1921661568
NM_002294.3(LAMP2):c.600C>T (p.Thr200=) rs2147282502
NM_002294.3(LAMP2):c.609C>A (p.Thr203=) rs1602535881
NM_002294.3(LAMP2):c.617C>T (p.Pro206Leu) rs1602535864
NM_002294.3(LAMP2):c.629C>A (p.Thr210Lys) rs2058604992
NM_002294.3(LAMP2):c.636T>C (p.Pro212=)
NM_002294.3(LAMP2):c.64+15C>A
NM_002294.3(LAMP2):c.64+1G>C rs957313991
NM_002294.3(LAMP2):c.64+20C>T
NM_002294.3(LAMP2):c.643A>G (p.Lys215Glu) rs2058604823
NM_002294.3(LAMP2):c.646G>T (p.Glu216Ter) rs2147282434
NM_002294.3(LAMP2):c.64G>T (p.Gly22Ter) rs2147294800
NM_002294.3(LAMP2):c.65-1G>C rs730880496
NM_002294.3(LAMP2):c.65-20_65-18del
NM_002294.3(LAMP2):c.65-6A>G rs1921113552
NM_002294.3(LAMP2):c.65-6A>T
NM_002294.3(LAMP2):c.653del (p.Pro218fs)
NM_002294.3(LAMP2):c.659dup (p.Gly221fs) rs1556101640
NM_002294.3(LAMP2):c.676A>G (p.Asn226Asp)
NM_002294.3(LAMP2):c.685A>G (p.Asn229Asp)
NM_002294.3(LAMP2):c.688G>A (p.Asp230Asn)
NM_002294.3(LAMP2):c.696T>A (p.Cys232Ter) rs1556101523
NM_002294.3(LAMP2):c.697C>T (p.Leu233=)
NM_002294.3(LAMP2):c.6G>A (p.Val2=) rs2147294923
NM_002294.3(LAMP2):c.704C>T (p.Ala235Val) rs2058604458
NM_002294.3(LAMP2):c.710T>C (p.Met237Thr) rs2147282386
NM_002294.3(LAMP2):c.713G>C (p.Gly238Ala)
NM_002294.3(LAMP2):c.715C>G (p.Leu239Val) rs730880481
NM_002294.3(LAMP2):c.719A>C (p.Gln240Pro)
NM_002294.3(LAMP2):c.72_96del (p.Val24_Arg25insTer)
NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser) rs1288096114
NM_002294.3(LAMP2):c.733C>G (p.Gln245Glu) rs1246477767
NM_002294.3(LAMP2):c.737A>G (p.Asp246Gly) rs730880482
NM_002294.3(LAMP2):c.739A>G (p.Lys247Glu)
NM_002294.3(LAMP2):c.73_74delinsTA (p.Arg25Ter)
NM_002294.3(LAMP2):c.741+10_741+11insTT
NM_002294.3(LAMP2):c.741+13A>G
NM_002294.3(LAMP2):c.741+1G>A rs1251075016
NM_002294.3(LAMP2):c.741+2T>A rs2147282355
NM_002294.3(LAMP2):c.741+6G>A
NM_002294.3(LAMP2):c.741+7G>T rs2147282351
NM_002294.3(LAMP2):c.741G>A (p.Lys247=)
NM_002294.3(LAMP2):c.742-11T>C
NM_002294.3(LAMP2):c.742-16TCT[2] rs730880476
NM_002294.3(LAMP2):c.742-7_742-5del rs779710402
NM_002294.3(LAMP2):c.742-8T>C
NM_002294.3(LAMP2):c.745G>A (p.Ala249Thr) rs2058596707
NM_002294.3(LAMP2):c.753dup (p.Ile252fs)
NM_002294.3(LAMP2):c.755T>C (p.Ile252Thr) rs141541387
NM_002294.3(LAMP2):c.758A>C (p.Asn253Thr)
NM_002294.3(LAMP2):c.763_768delinsTGAAGT (p.Asn255_Pro256delinsTer) rs2058596487
NM_002294.3(LAMP2):c.770A>G (p.Asn257Ser) rs1569369275
NM_002294.3(LAMP2):c.773C>G (p.Thr258Arg) rs111703410
NM_002294.3(LAMP2):c.774_780del (p.Thr259fs)
NM_002294.3(LAMP2):c.786A>G (p.Thr262=)
NM_002294.3(LAMP2):c.788del (p.Gly263fs) rs1060502303
NM_002294.3(LAMP2):c.807T>C (p.Thr269=) rs1211870519
NM_002294.3(LAMP2):c.80A>G (p.Tyr27Cys) rs1449153826
NM_002294.3(LAMP2):c.80A>T (p.Tyr27Phe)
NM_002294.3(LAMP2):c.815T>C (p.Leu272Pro) rs1569369217
NM_002294.3(LAMP2):c.815T>G (p.Leu272Arg) rs1569369217
NM_002294.3(LAMP2):c.823A>C (p.Asn275His) rs143699208
NM_002294.3(LAMP2):c.832A>C (p.Thr278Pro) rs2147281387
NM_002294.3(LAMP2):c.842A>G (p.Tyr281Cys) rs397516748
NM_002294.3(LAMP2):c.843T>G (p.Tyr281Ter) rs1569369194
NM_002294.3(LAMP2):c.850T>C (p.Phe284Leu)
NM_002294.3(LAMP2):c.864+18T>C rs2147281341
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.864+5G>T rs1352584474
NM_002294.3(LAMP2):c.864+6T>C rs2147281347
NM_002294.3(LAMP2):c.864+7A>G
NM_002294.3(LAMP2):c.864+8A>T rs923254412
NM_002294.3(LAMP2):c.864G>A (p.Val288=) rs2147281364
NM_002294.3(LAMP2):c.865-12dup rs746330494
NM_002294.3(LAMP2):c.865-18A>T
NM_002294.3(LAMP2):c.865-4del rs781417368
NM_002294.3(LAMP2):c.865-8T>C rs2147279553
NM_002294.3(LAMP2):c.865-8del rs746330494
NM_002294.3(LAMP2):c.86T>C (p.Leu29Ser)
NM_002294.3(LAMP2):c.876C>T (p.Asn292=)
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.887T>G (p.Leu296Arg) rs730880486
NM_002294.3(LAMP2):c.88G>T (p.Glu30Ter)
NM_002294.3(LAMP2):c.8G>C (p.Cys3Ser)
NM_002294.3(LAMP2):c.906C>T (p.Ser302=)
NM_002294.3(LAMP2):c.907A>G (p.Met303Val) rs768369360
NM_002294.3(LAMP2):c.907A>T (p.Met303Leu)
NM_002294.3(LAMP2):c.90A>G (p.Glu30=) rs1602540965
NM_002294.3(LAMP2):c.919A>G (p.Asn307Asp) rs2147279488
NM_002294.3(LAMP2):c.928+11C>T
NM_002294.3(LAMP2):c.928+18C>T
NM_002294.3(LAMP2):c.928+3A>G rs2147279469
NM_002294.3(LAMP2):c.928+4A>G rs1602532732
NM_002294.3(LAMP2):c.928+5G>A
NM_002294.3(LAMP2):c.928+8A>T
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.3(LAMP2):c.928G>C (p.Val310Leu) rs104894858
NM_002294.3(LAMP2):c.928G>T (p.Val310Phe) rs104894858
NM_002294.3(LAMP2):c.929-12T>C rs2147278991
NM_002294.3(LAMP2):c.929-13C>G
NM_002294.3(LAMP2):c.929-197_1070del rs2147278850
NM_002294.3(LAMP2):c.929-4G>C
NM_002294.3(LAMP2):c.929-9del rs1338648665
NM_002294.3(LAMP2):c.94A>G (p.Asn32Asp)
NM_002294.3(LAMP2):c.955del (p.Ser319fs) rs2147278957
NM_002294.3(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_002294.3(LAMP2):c.962G>A (p.Trp321Ter) rs1060502306
NM_002294.3(LAMP2):c.965A>T (p.Asp322Val)
NM_002294.3(LAMP2):c.966T>C (p.Asp322=) rs2147278937
NM_002294.3(LAMP2):c.969C>A (p.Ala323=) rs1602532246
NM_002294.3(LAMP2):c.970C>T (p.Pro324Ser) rs866736614
NM_002294.3(LAMP2):c.973C>G (p.Leu325Val)
NM_002294.3(LAMP2):c.973dup (p.Leu325fs) rs1556092459
NM_002294.3(LAMP2):c.976G>C (p.Gly326Arg)
NM_002294.3(LAMP2):c.987T>C (p.Tyr329=)
NM_002294.3(LAMP2):c.991T>C (p.Cys331Arg)
NM_002294.3(LAMP2):c.9C>T (p.Cys3=)

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