ClinVar Miner

List of variants reported as likely pathogenic for Junctional epidermolysis bullosa gravis of Herlitz

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ClinVar version:
Total variants: 172
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HGVS dbSNP
NM_000228.3(LAMB3):c.1007del (p.Gln336fs) rs1057517395
NM_000228.3(LAMB3):c.1023_1024TG[5] (p.Asp344fs) rs1057517290
NM_000228.3(LAMB3):c.1029T>A (p.Cys343Ter) rs1057516316
NM_000228.3(LAMB3):c.1063_1064TG[1] (p.Cys355_Glu356delinsTer) rs1553277686
NM_000228.3(LAMB3):c.1283_1288+14del rs1553277432
NM_000228.3(LAMB3):c.1288+1G>A rs1186161867
NM_000228.3(LAMB3):c.1288+1G>T rs1186161867
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565
NM_000228.3(LAMB3):c.1486-1G>A rs1418276828
NM_000228.3(LAMB3):c.1597+1G>T rs1553277072
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805
NM_000228.3(LAMB3):c.1823dup (p.Ser608fs) rs1057516219
NM_000228.3(LAMB3):c.183+2T>C rs1553281291
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392
NM_000228.3(LAMB3):c.2011del (p.Leu671fs) rs1057516822
NM_000228.3(LAMB3):c.2108_2127del (p.Gln702_Phe703insTer) rs1553276488
NM_000228.3(LAMB3):c.2170C>T (p.Gln724Ter) rs1057517207
NM_000228.3(LAMB3):c.2182del (p.Ala728fs) rs1553276430
NM_000228.3(LAMB3):c.223_224CA[1] (p.His75fs) rs886045870
NM_000228.3(LAMB3):c.2288del (p.Gly763fs) rs886041893
NM_000228.3(LAMB3):c.2346del (p.Thr783fs) rs1057516486
NM_000228.3(LAMB3):c.2358+2T>C rs1057516838
NM_000228.3(LAMB3):c.2362_2372del (p.Cys788fs) rs1375506940
NM_000228.3(LAMB3):c.2396dup (p.Ser800fs) rs1553276268
NM_000228.3(LAMB3):c.2516del (p.Leu839fs) rs1553276216
NM_000228.3(LAMB3):c.2556+1G>A rs1178041263
NM_000228.3(LAMB3):c.2701+1G>A rs1553276110
NM_000228.3(LAMB3):c.29-2A>G rs371267954
NM_000228.3(LAMB3):c.298+2T>C rs1057517312
NM_000228.3(LAMB3):c.3024del (p.Arg1009fs) rs777292177
NM_000228.3(LAMB3):c.3034C>T (p.Gln1012Ter) rs1057516756
NM_000228.3(LAMB3):c.3052-1G>A rs774472247
NM_000228.3(LAMB3):c.308del (p.Pro103fs) rs1553279073
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter) rs1057516759
NM_000228.3(LAMB3):c.3250_3251del (p.Lys1084fs) rs1553275219
NM_000228.3(LAMB3):c.3517_3518del (p.Ter1173MetextTer?) rs1057516400
NM_000228.3(LAMB3):c.372+1G>C rs1553279044
NM_000228.3(LAMB3):c.372+2T>G rs1057516675
NM_000228.3(LAMB3):c.373-2A>G rs1057517258
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364
NM_000228.3(LAMB3):c.497_498AG[1] (p.Ser167fs) rs1057516241
NM_000228.3(LAMB3):c.505C>T (p.Gln169Ter) rs1057516399
NM_000228.3(LAMB3):c.561del (p.Lys188fs) rs1057516947
NM_000228.3(LAMB3):c.565-1G>T rs1057516693
NM_000228.3(LAMB3):c.565-2A>C rs370148688
NM_000228.3(LAMB3):c.628+1G>A rs1057516539
NM_000228.3(LAMB3):c.69_70del (p.Ala25fs) rs1057516884
NM_000228.3(LAMB3):c.823-1G>T rs778372285
NM_000228.3(LAMB3):c.870T>A (p.Cys290Ter) rs1057516809
NM_000228.3(LAMB3):c.920del (p.Gly307fs) rs1057516249
NM_000228.3(LAMB3):c.943+2T>A rs1464038626
NM_000228.3(LAMB3):c.977del (p.His326fs) rs753711190
NM_000228.3(LAMB3):c.978del (p.Phe327fs) rs763559509
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter) rs118203899
NM_005562.3(LAMC2):c.1066+1G>T rs1558092158
NM_005562.3(LAMC2):c.1257del (p.Gly421fs) rs1553266433
NM_005562.3(LAMC2):c.134_137del (p.Arg45fs) rs1057516806
NM_005562.3(LAMC2):c.1468+1G>T rs1043996591
NM_005562.3(LAMC2):c.1468+1del rs1553266537
NM_005562.3(LAMC2):c.146_150dup (p.Phe51fs) rs1057517353
NM_005562.3(LAMC2):c.1714+2T>C rs1553266671
NM_005562.3(LAMC2):c.1715-1G>A rs774080932
NM_005562.3(LAMC2):c.1715-1G>C rs774080932
NM_005562.3(LAMC2):c.1782_1783del (p.Lys594fs) rs1553266871
NM_005562.3(LAMC2):c.180dup (p.Asp61Ter) rs1553264644
NM_005562.3(LAMC2):c.1858-1G>A rs1057516487
NM_005562.3(LAMC2):c.1970_1971del (p.Glu657fs) rs1057516569
NM_005562.3(LAMC2):c.1A>G (p.Met1Val) rs886045625
NM_005562.3(LAMC2):c.2006_2012del (p.Ile669fs) rs778012079
NM_005562.3(LAMC2):c.2014+1G>A rs1553267007
NM_005562.3(LAMC2):c.2220+2T>G rs1553267060
NM_005562.3(LAMC2):c.2348del (p.Glu783fs) rs776142807
NM_005562.3(LAMC2):c.2389_2392del (p.Leu797fs) rs1057516383
NM_005562.3(LAMC2):c.2418_2425dup (p.Asp809fs) rs1553267345
NM_005562.3(LAMC2):c.2456+1G>C rs1553267356
NM_005562.3(LAMC2):c.2539_2540CA[1] (p.His847fs) rs1057516727
NM_005562.3(LAMC2):c.2590C>T (p.Gln864Ter) rs151190720
NM_005562.3(LAMC2):c.2602-1G>C rs1553267499
NM_005562.3(LAMC2):c.268+1G>A rs759509443
NM_005562.3(LAMC2):c.2755-2A>G rs1553267554
NM_005562.3(LAMC2):c.2927_2928TC[1] (p.Ser977fs) rs1057516935
NM_005562.3(LAMC2):c.3069+1G>C rs1553267638
NM_005562.3(LAMC2):c.3147dup (p.Lys1050fs) rs1057517159
NM_005562.3(LAMC2):c.3223_3224del (p.Gln1075fs) rs1553267679
NM_005562.3(LAMC2):c.3329-2A>G rs1553267870
NM_005562.3(LAMC2):c.3357del (p.Leu1120fs) rs1057516473
NM_005562.3(LAMC2):c.3375_3394del (p.Gln1125fs) rs1553267882
NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter) rs201307156
NM_005562.3(LAMC2):c.3411del (p.Gln1137fs) rs1553267885
NM_005562.3(LAMC2):c.3G>T (p.Met1Ile) rs1479808203
NM_005562.3(LAMC2):c.503+1G>C rs1057516410
NM_005562.3(LAMC2):c.504-2A>C rs1553265770
NM_005562.3(LAMC2):c.537del (p.Asn180fs) rs745512079
NM_005562.3(LAMC2):c.559_560insAA (p.Cys187Ter) rs1057516444
NM_005562.3(LAMC2):c.640+2T>A rs1553265794
NM_005562.3(LAMC2):c.641-2A>G rs1553265902
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter) rs753268823
NM_005562.3(LAMC2):c.709C>T (p.Gln237Ter) rs757617349
NM_005562.3(LAMC2):c.80-2A>G rs771613805
NM_005562.3(LAMC2):c.877_878del (p.Gly293fs) rs1057516218
NM_005562.3(LAMC2):c.953+1G>A rs1553266052
NM_005562.3(LAMC2):c.954-2A>T rs1553266260
NM_198129.3(LAMA3):c.4998+1384A>T rs747547191
NM_198129.3(LAMA3):c.4998+1385T>C rs1555720521
NM_198129.3(LAMA3):c.4998+1425G>A rs900100444
NM_198129.3(LAMA3):c.4998+1474C>T rs1057516512
NM_198129.3(LAMA3):c.4998+1491del rs1231716161
NM_198129.3(LAMA3):c.5049del (p.Cys1684fs) rs752030611
NM_198129.3(LAMA3):c.5112+1G>A rs1057517023
NM_198129.3(LAMA3):c.5112+1G>T rs1057517023
NM_198129.3(LAMA3):c.5112+2T>G rs1555721815
NM_198129.3(LAMA3):c.5113-2A>G rs1057516475
NM_198129.3(LAMA3):c.5152del (p.Cys1718fs) rs1057517235
NM_198129.3(LAMA3):c.5197dup (p.Ala1733fs) rs1555724066
NM_198129.3(LAMA3):c.5205del (p.Cys1736fs) rs1057517367
NM_198129.3(LAMA3):c.5221A>G (p.Ser1741Gly) rs1555724108
NM_198129.3(LAMA3):c.5411-2_5411-1delinsGA rs1555728297
NM_198129.3(LAMA3):c.5461+1G>A rs1555728319
NM_198129.3(LAMA3):c.5594_5597del (p.Thr1865fs) rs1555728701
NM_198129.3(LAMA3):c.5688dup (p.Asp1897Ter) rs1057517314
NM_198129.3(LAMA3):c.5782C>T (p.Gln1928Ter) rs1555730209
NM_198129.3(LAMA3):c.5836+2T>C rs1057516584
NM_198129.3(LAMA3):c.5980_5981del (p.Glu1993_Ala1994insTer) rs1057516688
NM_198129.3(LAMA3):c.6266C>G (p.Ser2089Ter) rs1555732032
NM_198129.3(LAMA3):c.6318+2T>C rs1057516280
NM_198129.3(LAMA3):c.6377_6380del (p.Val2126fs) rs1555732431
NM_198129.3(LAMA3):c.6472G>T (p.Glu2158Ter) rs1555732528
NM_198129.3(LAMA3):c.6505del (p.Val2169fs) rs1057516476
NM_198129.3(LAMA3):c.6567del (p.Glu2190fs) rs1555732939
NM_198129.3(LAMA3):c.6708_6711delinsCCT (p.Lys2236fs) rs1057517196
NM_198129.3(LAMA3):c.6719-2A>G rs1555734356
NM_198129.3(LAMA3):c.6836-2A>G rs1555734513
NM_198129.3(LAMA3):c.7054A>T (p.Lys2352Ter) rs765104557
NM_198129.3(LAMA3):c.7075C>T (p.Gln2359Ter) rs1555735252
NM_198129.3(LAMA3):c.7158+1G>A rs1057516279
NM_198129.3(LAMA3):c.7165del (p.Val2389fs) rs1555736532
NM_198129.3(LAMA3):c.7219del (p.Leu2407fs) rs1555736608
NM_198129.3(LAMA3):c.7343_7346del (p.Tyr2448fs) rs1555737473
NM_198129.3(LAMA3):c.7352del (p.Met2451fs) rs1555737509
NM_198129.3(LAMA3):c.7461_7481+17del rs1555737629
NM_198129.3(LAMA3):c.7489C>T (p.Gln2497Ter) rs1555737779
NM_198129.3(LAMA3):c.7677del (p.Gly2560fs) rs1057516605
NM_198129.3(LAMA3):c.7820del (p.Gly2607fs) rs1356353167
NM_198129.3(LAMA3):c.7828C>T (p.Arg2610Ter) rs768415785
NM_198129.3(LAMA3):c.7998_7999AG[3] (p.Gly2669fs) rs1303193834
NM_198129.3(LAMA3):c.8043+2T>C rs1555740717
NM_198129.3(LAMA3):c.8044-1G>T rs141789403
NM_198129.3(LAMA3):c.8081G>A (p.Trp2694Ter) rs1555740945
NM_198129.3(LAMA3):c.8102del (p.Asn2701fs) rs1555740963
NM_198129.3(LAMA3):c.8177+2T>G rs786204732
NM_198129.3(LAMA3):c.8203C>T (p.Arg2735Ter) rs774133746
NM_198129.3(LAMA3):c.8292G>A (p.Trp2764Ter) rs1555743454
NM_198129.3(LAMA3):c.8295+2T>C rs1555743457
NM_198129.3(LAMA3):c.8436G>A (p.Trp2812Ter) rs1057516764
NM_198129.3(LAMA3):c.8576+1G>A rs1555744805
NM_198129.3(LAMA3):c.8576+2T>G rs1555744812
NM_198129.3(LAMA3):c.8626_8627insC (p.Lys2876fs) rs1555745207
NM_198129.3(LAMA3):c.8664_8673dup (p.Phe2892fs) rs1555745263
NM_198129.3(LAMA3):c.8708+1G>T rs754558574
NM_198129.3(LAMA3):c.8708+2T>G rs1555745317
NM_198129.3(LAMA3):c.8786T>G (p.Leu2929Ter) rs1401574168
NM_198129.3(LAMA3):c.8827del (p.Arg2943fs) rs1555746079
NM_198129.3(LAMA3):c.8891dup (p.Arg2965fs) rs34754160
NM_198129.3(LAMA3):c.8971dup (p.Asp2991fs) rs1057517211
NM_198129.3(LAMA3):c.9114T>G (p.Tyr3038Ter) rs1555751423
NM_198129.3(LAMA3):c.9176del (p.Ser3059fs) rs1555751482
NM_198129.3(LAMA3):c.9202del (p.Trp3068fs) rs1555751529
NM_198129.3(LAMA3):c.9352-1G>C rs1057517272
NM_198129.3(LAMA3):c.9400del (p.Asp3134fs) rs1555754450
NM_198129.3(LAMA3):c.9512-1G>T rs1555754655
NM_198129.3(LAMA3):c.9575del (p.Thr3192fs) rs1057517440
NM_198129.3(LAMA3):c.9736+1G>C rs1234435123

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