ClinVar Miner

List of variants reported as uncertain significance for Danon disease

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ClinVar version:
Total variants: 232
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.*586A>G rs41312757 0.00248
NM_002294.3(LAMP2):c.*4963del rs754879365 0.00097
NM_002294.3(LAMP2):c.*853G>A rs763861761 0.00088
NM_002294.3(LAMP2):c.*1413A>G rs773379092 0.00076
NM_002294.3(LAMP2):c.*3488C>T rs773236667 0.00074
NM_002294.3(LAMP2):c.*1632A>G rs755434692 0.00067
NM_002294.3(LAMP2):c.*4757A>G rs767652057 0.00040
NM_002294.3(LAMP2):c.*4961A>G rs765371462 0.00039
NM_002294.3(LAMP2):c.*5172A>G rs778592348 0.00024
NM_013995.2(LAMP2):c.-136C>G rs944875305 0.00020
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp) rs730880478 0.00015
NM_002294.3(LAMP2):c.*1672C>T rs1024440041 0.00014
NM_002294.3(LAMP2):c.*2476C>T rs776684734 0.00013
NM_002294.3(LAMP2):c.*4763A>T rs761928368 0.00013
NM_002294.3(LAMP2):c.1093+2532G>A rs730880488 0.00013
NM_002294.3(LAMP2):c.*975A>G rs1179268991 0.00011
NM_002294.3(LAMP2):c.1093+2544A>G rs777128122 0.00009
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp) rs369032377 0.00009
NM_002294.3(LAMP2):c.*1191A>T rs1004327482 0.00007
NM_002294.3(LAMP2):c.*4004C>T rs1001857275 0.00007
NM_002294.3(LAMP2):c.*4006G>T rs905784906 0.00007
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.*3689T>C rs975386272 0.00006
NM_002294.3(LAMP2):c.*721A>C rs887326511 0.00006
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser) rs766491800 0.00006
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.*4664A>G rs894257602 0.00004
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu) rs769378984 0.00004
NM_002294.3(LAMP2):c.928+6C>T rs769837038 0.00004
NM_002294.3(LAMP2):c.*2147T>C rs1314194515 0.00003
NM_002294.3(LAMP2):c.*4858A>G rs943561186 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.320C>G (p.Ser107Cys) rs730880497 0.00003
NM_002294.3(LAMP2):c.398-3T>C rs1045629648 0.00003
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val) rs1362738445 0.00003
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr) rs776101722 0.00003
NM_002294.3(LAMP2):c.999A>C (p.Lys333Asn) rs1341268966 0.00003
NM_002294.3(LAMP2):c.*3263T>C rs1164559557 0.00002
NM_002294.3(LAMP2):c.1078G>A (p.Gly360Arg) rs781134467 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.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.64+6T>C rs1921660826 0.00002
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr) rs778577575 0.00002
NM_002294.3(LAMP2):c.977G>C (p.Gly326Ala) rs991396612 0.00002
NM_002294.3(LAMP2):c.*238G>A rs2058520973 0.00001
NM_002294.3(LAMP2):c.*3276C>T rs1043524915 0.00001
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.1069G>A (p.Val357Met) rs886038907 0.00001
NM_002294.3(LAMP2):c.10T>C (p.Phe4Leu) rs1375151119 0.00001
NM_002294.3(LAMP2):c.178A>G (p.Thr60Ala) rs1207512652 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.373A>G (p.Thr125Ala) rs748494547 0.00001
NM_002294.3(LAMP2):c.376T>C (p.Phe126Leu) rs1921041200 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.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.773C>T (p.Thr258Ile) rs111703410 0.00001
NM_002294.3(LAMP2):c.805A>G (p.Thr269Ala) rs1131691290 0.00001
NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn) rs1271107737 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.(?_119565178)_(119565337_?)dup
NC_000023.10:g.(?_119565178)_(119575769_?)dup
NC_000023.10:g.(?_119565178)_(119581900_?)dup
NC_000023.10:g.(?_119575565)_(119660731_?)dup
NC_000023.10:g.(?_119602955)_(119603030_?)dup
NC_000023.11:g.(?_120431313)_(120469179_?)dup
NM_002294.3(LAMP2):c.*2148AT[8] rs753399289
NM_002294.3(LAMP2):c.*2736T>A rs1057515738
NM_002294.3(LAMP2):c.*2955A>G rs1275264834
NM_002294.3(LAMP2):c.*3347GTTA[1] rs764018077
NM_002294.3(LAMP2):c.*3413T>C rs1180263874
NM_002294.3(LAMP2):c.*3563T>G rs2058504321
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.1009G>C (p.Val337Leu)
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.1040C>G (p.Thr347Ser) rs730880487
NM_002294.3(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_002294.3(LAMP2):c.1054G>A (p.Val352Ile)
NM_002294.3(LAMP2):c.1084T>C (p.Tyr362His)
NM_002294.3(LAMP2):c.1093+2440_1093+2441del rs2147277541
NM_002294.3(LAMP2):c.1093+2532G>T rs730880488
NM_002294.3(LAMP2):c.1093+5G>A
NM_002294.3(LAMP2):c.1094-1G>C rs1331940434
NM_002294.3(LAMP2):c.1094-2A>G rs2147273254
NM_002294.3(LAMP2):c.1103G>A (p.Cys368Tyr)
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.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.1213G>A (p.Ala405Thr) rs1556078130
NM_002294.3(LAMP2):c.1217G>T (p.Gly406Val) rs2058522120
NM_002294.3(LAMP2):c.13C>T (p.Arg5Cys) rs2147294900
NM_002294.3(LAMP2):c.14G>T (p.Arg5Leu) rs1921666685
NM_002294.3(LAMP2):c.158G>T (p.Arg53Leu)
NM_002294.3(LAMP2):c.166A>G (p.Thr56Ala) rs2147287602
NM_002294.3(LAMP2):c.184-18A>G
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.211A>G (p.Thr71Ala)
NM_002294.3(LAMP2):c.212C>T (p.Thr71Ile)
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.263T>C (p.Ile88Thr) rs1569371283
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.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.331A>G (p.Ile111Val) rs762218821
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.358A>C (p.Thr120Pro)
NM_002294.3(LAMP2):c.364G>A (p.Asp122Asn) rs730880480
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.398G>A (p.Gly133Glu) rs2147283120
NM_002294.3(LAMP2):c.409G>C (p.Val137Leu) rs2147283117
NM_002294.3(LAMP2):c.413A>G (p.Asp138Gly)
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.449T>A (p.Leu150His)
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.463A>G (p.Ser155Gly)
NM_002294.3(LAMP2):c.467T>C (p.Leu156Ser) 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.52T>C (p.Cys18Arg)
NM_002294.3(LAMP2):c.533A>C (p.Gln178Pro) rs775432228
NM_002294.3(LAMP2):c.554A>G (p.Asn185Ser) rs1207197859
NM_002294.3(LAMP2):c.571A>G (p.Lys191Glu) rs2058605695
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.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.595C>T (p.Pro199Ser)
NM_002294.3(LAMP2):c.59T>G (p.Val20Gly) rs1921661568
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.64+16C>T rs780307352
NM_002294.3(LAMP2):c.643A>G (p.Lys215Glu) rs2058604823
NM_002294.3(LAMP2):c.65-6A>G rs1921113552
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.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.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.741+6G>A
NM_002294.3(LAMP2):c.741G>A (p.Lys247=)
NM_002294.3(LAMP2):c.745G>A (p.Ala249Thr) rs2058596707
NM_002294.3(LAMP2):c.755T>C (p.Ile252Thr) rs141541387
NM_002294.3(LAMP2):c.758A>C (p.Asn253Thr)
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.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.850T>C (p.Phe284Leu)
NM_002294.3(LAMP2):c.864+5G>T rs1352584474
NM_002294.3(LAMP2):c.864+6T>C rs2147281347
NM_002294.3(LAMP2):c.86T>C (p.Leu29Ser)
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.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.919A>G (p.Asn307Asp) rs2147279488
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.937A>C (p.Ile313Leu)
NM_002294.3(LAMP2):c.94A>G (p.Asn32Asp)
NM_002294.3(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_002294.3(LAMP2):c.965A>T (p.Asp322Val)
NM_002294.3(LAMP2):c.970C>T (p.Pro324Ser) rs866736614
NM_002294.3(LAMP2):c.973C>G (p.Leu325Val)
NM_002294.3(LAMP2):c.976G>C (p.Gly326Arg)
NM_002294.3(LAMP2):c.991T>C (p.Cys331Arg)
NM_002294.3(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746
NM_013995.2(LAMP2):c.-168dup rs760941179

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