ClinVar Miner

List of variants reported for Junctional epidermolysis bullosa gravis of Herlitz by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 273
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198129.4(LAMA3):c.9559C>T (p.Arg3187Cys) rs150956802 0.00200
NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys) rs61752346 0.00147
NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly) rs140769823 0.00116
NM_005562.3(LAMC2):c.883C>T (p.Arg295Trp) rs147959853 0.00098
NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys) rs35762515 0.00056
NM_000228.3(LAMB3):c.1090C>T (p.Arg364Trp) rs370699820 0.00016
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392 0.00006
NM_198129.4(LAMA3):c.4750C>T (p.Arg1584Ter) rs552326056 0.00006
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805 0.00005
NM_005562.3(LAMC2):c.503+14G>A rs372097432 0.00005
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565 0.00004
NM_000228.3(LAMB3):c.1823dup (p.Ser608fs) rs1057516219 0.00004
NM_005562.3(LAMC2):c.-15C>T rs762430522 0.00004
NM_005562.3(LAMC2):c.301C>T (p.Arg101Trp) rs563159537 0.00004
NM_000228.3(LAMB3):c.2036C>T (p.Pro679Leu) rs201223111 0.00003
NM_000228.3(LAMB3):c.2137+37G>A rs374527059 0.00003
NM_005562.3(LAMC2):c.1468+1G>T rs1043996591 0.00003
NM_198129.4(LAMA3):c.8044-1G>T rs141789403 0.00003
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364 0.00002
NM_000228.3(LAMB3):c.977del (p.His326fs) rs753711190 0.00002
NM_000228.3(LAMB3):c.978del (p.Phe327fs) rs763559509 0.00002
NM_005562.3(LAMC2):c.80-2A>G rs771613805 0.00002
NM_198129.4(LAMA3):c.1064-2A>G rs756617534 0.00002
NM_198129.4(LAMA3):c.3376C>T (p.Arg1126Ter) rs540179310 0.00002
NM_198129.4(LAMA3):c.4519C>T (p.Gln1507Ter) rs534665666 0.00002
NM_000227.6(LAMA3):c.108del (p.Leu38fs) rs1231716161 0.00001
NM_000227.6(LAMA3):c.1A>T (p.Met1Leu) rs747547191 0.00001
NM_000228.3(LAMB3):c.1597+1G>T rs1553277072 0.00001
NM_000228.3(LAMB3):c.3329C>T (p.Thr1110Ile) rs886045859 0.00001
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter) rs759518184 0.00001
NM_000228.3(LAMB3):c.628+1G>A rs1057516539 0.00001
NM_000228.3(LAMB3):c.628+42G>A rs587776812 0.00001
NM_000228.3(LAMB3):c.868T>A (p.Cys290Ser) rs1553277846 0.00001
NM_198129.4(LAMA3):c.10000T>A (p.Ter3334Lys) rs1555756804 0.00001
NM_198129.4(LAMA3):c.1064-1G>A rs780441868 0.00001
NM_198129.4(LAMA3):c.1555C>T (p.Arg519Ter) rs757972988 0.00001
NM_198129.4(LAMA3):c.1742-1G>A rs778808869 0.00001
NM_198129.4(LAMA3):c.2147+1G>A rs1555700517 0.00001
NM_198129.4(LAMA3):c.2571+2dup rs1203300407 0.00001
NM_198129.4(LAMA3):c.3093+1G>C rs1392528129 0.00001
NM_198129.4(LAMA3):c.3175C>T (p.Arg1059Ter) rs868258726 0.00001
NM_198129.4(LAMA3):c.4996C>T (p.Gln1666Ter) rs1317347725 0.00001
NM_198129.4(LAMA3):c.5113-2A>G rs1057516475 0.00001
NM_198129.4(LAMA3):c.7158+1G>A rs1057516279 0.00001
NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter) rs774133746 0.00001
NM_198129.4(LAMA3):c.8295+2T>C rs1555743457 0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter) rs772038362 0.00001
NM_198129.4(LAMA3):c.9511+1G>A rs1296034886 0.00001
NM_000227.6(LAMA3):c.2T>C (p.Met1Thr) rs1555720521
NM_000227.6(LAMA3):c.42G>A (p.Trp14Ter) rs900100444
NM_000227.6(LAMA3):c.91C>T (p.Gln31Ter) rs1057516512
NM_000228.2(LAMB3):c.2138_2140delGAG rs1553276448
NM_000228.3(LAMB3):c.1007del (p.Gln336fs) rs1057517395
NM_000228.3(LAMB3):c.1029T>A (p.Cys343Ter) rs1057516316
NM_000228.3(LAMB3):c.1029_1030dup (p.Asp344fs) rs1057517290
NM_000228.3(LAMB3):c.1065_1066del (p.Cys355_Glu356delinsTer) rs1553277686
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.3(LAMB3):c.1150G>A (p.Asp384Asn) rs267598351
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.1459_1461dup (p.Asn487dup) rs1553277238
NM_000228.3(LAMB3):c.1486-1G>A rs1418276828
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs) rs769151482
NM_000228.3(LAMB3):c.183+2T>C rs1553281291
NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter) rs121912484
NM_000228.3(LAMB3):c.2011del (p.Leu671fs) rs1057516822
NM_000228.3(LAMB3):c.2027_2029del (p.Leu676del) rs1553276516
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.225_226del (p.His75fs) rs886045870
NM_000228.3(LAMB3):c.2271AGG[5] (p.Gly761dup) rs752460751
NM_000228.3(LAMB3):c.2271AGG[6] (p.Gly760_Gly761dup) rs752460751
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.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.2864_2890del (p.Asp955_Gln963del) rs745574977
NM_000228.3(LAMB3):c.29-2A>G rs371267954
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp) rs2229467
NM_000228.3(LAMB3):c.298+2T>C rs1057517312
NM_000228.3(LAMB3):c.3007G>A (p.Gly1003Ser) rs886045862
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.499_500del (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.596G>C (p.Gly199Ala) rs121912486
NM_000228.3(LAMB3):c.69_70del (p.Ala25fs) rs1057516884
NM_000228.3(LAMB3):c.822+2dup rs1553278151
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_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter) rs118203899
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+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.2413_2421del (p.Ser805_Ser807del) rs1553267343
NM_005562.3(LAMC2):c.2418_2425dup (p.Asp809fs) rs1553267345
NM_005562.3(LAMC2):c.2456+1G>C rs1553267356
NM_005562.3(LAMC2):c.2456+2dup rs1553267357
NM_005562.3(LAMC2):c.2541_2542del (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.2708AAG[2] (p.Glu905del) rs1179496469
NM_005562.3(LAMC2):c.2755-2A>G rs1553267554
NM_005562.3(LAMC2):c.2929_2930del (p.Ser977fs) rs1057516935
NM_005562.3(LAMC2):c.2944_2946del (p.Lys982del) rs1553267617
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.3328+19_3328+25del rs747693187
NM_005562.3(LAMC2):c.3328+8AACCCAC[3] rs747693187
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.877_878del (p.Gly293fs) rs1057516218
NM_005562.3(LAMC2):c.953+1G>A rs1553266052
NM_005562.3(LAMC2):c.954-2A>T rs1553266260
NM_198129.4(LAMA3):c.1054G>T (p.Glu352Ter) rs1344062987
NM_198129.4(LAMA3):c.1611G>A (p.Trp537Ter) rs1555698689
NM_198129.4(LAMA3):c.1741+2T>C rs1555698735
NM_198129.4(LAMA3):c.18del (p.Pro7fs) rs1555670401
NM_198129.4(LAMA3):c.1941+1del rs1555700047
NM_198129.4(LAMA3):c.1942-2A>C rs1555700119
NM_198129.4(LAMA3):c.2204_2210del (p.Asp735fs) rs1555701549
NM_198129.4(LAMA3):c.2305-2A>G rs1555702265
NM_198129.4(LAMA3):c.2428+1G>A rs375558120
NM_198129.4(LAMA3):c.2572-2A>G rs1555703785
NM_198129.4(LAMA3):c.2823+1G>A rs1555704210
NM_198129.4(LAMA3):c.2868C>A (p.Tyr956Ter) rs755080322
NM_198129.4(LAMA3):c.2886T>G (p.Tyr962Ter) rs550140177
NM_198129.4(LAMA3):c.3093+1G>A rs1392528129
NM_198129.4(LAMA3):c.3140_3141del (p.Val1047fs) rs1555708032
NM_198129.4(LAMA3):c.3336+1G>A rs1555708549
NM_198129.4(LAMA3):c.3381C>A (p.Tyr1127Ter) rs767385840
NM_198129.4(LAMA3):c.3463+1G>A rs1555709710
NM_198129.4(LAMA3):c.3719+3_3719+6del rs1436285030
NM_198129.4(LAMA3):c.3936C>A (p.Cys1312Ter) rs374897016
NM_198129.4(LAMA3):c.394del (p.Leu132fs) rs887748208
NM_198129.4(LAMA3):c.3972del (p.Gln1325fs) rs747355586
NM_198129.4(LAMA3):c.4128del (p.Gln1377fs) rs1555712024
NM_198129.4(LAMA3):c.4174del (p.Cys1392fs) rs1555715208
NM_198129.4(LAMA3):c.4201G>T (p.Glu1401Ter) rs752265207
NM_198129.4(LAMA3):c.4422+1G>A rs1016415773
NM_198129.4(LAMA3):c.4501del (p.Ser1501fs) rs1555716726
NM_198129.4(LAMA3):c.4538_4560del (p.Ile1513fs) rs1555716754
NM_198129.4(LAMA3):c.4768-2A>G rs1555719747
NM_198129.4(LAMA3):c.4810GAG[1] (p.Glu1605del) rs1555719776
NM_198129.4(LAMA3):c.4855C>T (p.Gln1619Ter) rs1555719813
NM_198129.4(LAMA3):c.4909_4925del (p.Glu1637fs) rs1598965457
NM_198129.4(LAMA3):c.4974del (p.Ala1659fs) rs767394785
NM_198129.4(LAMA3):c.5049del (p.Cys1684fs) rs752030611
NM_198129.4(LAMA3):c.5072_5073insGGG (p.Gly1691dup) rs1555721786
NM_198129.4(LAMA3):c.5112+1G>A rs1057517023
NM_198129.4(LAMA3):c.5112+1G>T rs1057517023
NM_198129.4(LAMA3):c.5112+2T>G rs1555721815
NM_198129.4(LAMA3):c.5152del (p.Cys1718fs) rs1057517235
NM_198129.4(LAMA3):c.5197dup (p.Ala1733fs) rs1555724066
NM_198129.4(LAMA3):c.5205del (p.Cys1736fs) rs1057517367
NM_198129.4(LAMA3):c.5221A>G (p.Ser1741Gly) rs1555724108
NM_198129.4(LAMA3):c.5411-2_5411-1delinsGA rs1555728297
NM_198129.4(LAMA3):c.5461+1G>A rs1555728319
NM_198129.4(LAMA3):c.5594_5597del (p.Thr1865fs) rs1555728701
NM_198129.4(LAMA3):c.5600_5601insTAGGCACATGGAGACCCAGGC (p.Arg1861_Ala1867dup) rs1555728685
NM_198129.4(LAMA3):c.566-1G>A rs776632604
NM_198129.4(LAMA3):c.5688dup (p.Asp1897Ter) rs1057517314
NM_198129.4(LAMA3):c.5782C>T (p.Gln1928Ter) rs1555730209
NM_198129.4(LAMA3):c.5836+2T>C rs1057516584
NM_198129.4(LAMA3):c.584T>G (p.Leu195Ter) rs1555683785
NM_198129.4(LAMA3):c.5980_5981del (p.Glu1993_Ala1994insTer) rs1057516688
NM_198129.4(LAMA3):c.6041del (p.Gln2014fs) rs1555731178
NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer) rs1158945258
NM_198129.4(LAMA3):c.6266C>G (p.Ser2089Ter) rs1555732032
NM_198129.4(LAMA3):c.6318+2T>C rs1057516280
NM_198129.4(LAMA3):c.6377_6380del (p.Val2126fs) rs1555732431
NM_198129.4(LAMA3):c.6472G>T (p.Glu2158Ter) rs1555732528
NM_198129.4(LAMA3):c.6505del (p.Val2169fs) rs1057516476
NM_198129.4(LAMA3):c.6532_6534del (p.Ala2178del) rs1555732875
NM_198129.4(LAMA3):c.6567del (p.Glu2190fs) rs1555732939
NM_198129.4(LAMA3):c.6616-13G>T rs886053672
NM_198129.4(LAMA3):c.6708_6711delinsCCT (p.Lys2236fs) rs1057517196
NM_198129.4(LAMA3):c.6719-2A>G rs1555734356
NM_198129.4(LAMA3):c.6836-2A>G rs1555734513
NM_198129.4(LAMA3):c.6836-36_6836-16del rs1555734493
NM_198129.4(LAMA3):c.7054A>T (p.Lys2352Ter) rs765104557
NM_198129.4(LAMA3):c.7075C>T (p.Gln2359Ter) rs1555735252
NM_198129.4(LAMA3):c.7165del (p.Val2389fs) rs1555736532
NM_198129.4(LAMA3):c.7219del (p.Leu2407fs) rs1555736608
NM_198129.4(LAMA3):c.7343_7346del (p.Tyr2448fs) rs1555737473
NM_198129.4(LAMA3):c.734del (p.Phe245fs) rs1555684238
NM_198129.4(LAMA3):c.7352del (p.Met2451fs) rs1555737509
NM_198129.4(LAMA3):c.7459A>T (p.Met2487Leu) rs1085308017
NM_198129.4(LAMA3):c.7461_7481+17del rs1555737629
NM_198129.4(LAMA3):c.7489C>T (p.Gln2497Ter) rs1555737779
NM_198129.4(LAMA3):c.7677del (p.Gly2560fs) rs1057516605
NM_198129.4(LAMA3):c.7820del (p.Gly2607fs) rs1356353167
NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter) rs768415785
NM_198129.4(LAMA3):c.8004_8005del (p.Gly2669fs) rs1303193834
NM_198129.4(LAMA3):c.8043+2T>C rs1555740717
NM_198129.4(LAMA3):c.8081G>A (p.Trp2694Ter) rs1555740945
NM_198129.4(LAMA3):c.8102del (p.Asn2701fs) rs1555740963
NM_198129.4(LAMA3):c.8292G>A (p.Trp2764Ter) rs1555743454
NM_198129.4(LAMA3):c.8436G>A (p.Trp2812Ter) rs1057516764
NM_198129.4(LAMA3):c.856-2A>G rs757101344
NM_198129.4(LAMA3):c.8576+1G>A rs1555744805
NM_198129.4(LAMA3):c.8576+2T>G rs1555744812
NM_198129.4(LAMA3):c.8626_8627insC (p.Lys2876fs) rs1555745207
NM_198129.4(LAMA3):c.8664_8673dup (p.Phe2892fs) rs1555745263
NM_198129.4(LAMA3):c.8708+1G>T rs754558574
NM_198129.4(LAMA3):c.8708+2T>G rs1555745317
NM_198129.4(LAMA3):c.8786T>G (p.Leu2929Ter) rs1401574168
NM_198129.4(LAMA3):c.8827del (p.Arg2943fs) rs1555746079
NM_198129.4(LAMA3):c.8891dup (p.Arg2965fs) rs34754160
NM_198129.4(LAMA3):c.8971dup (p.Asp2991fs) rs1057517211
NM_198129.4(LAMA3):c.9114T>G (p.Tyr3038Ter) rs1555751423
NM_198129.4(LAMA3):c.916G>T (p.Glu306Ter) rs771405735
NM_198129.4(LAMA3):c.9176del (p.Ser3059fs) rs1555751482
NM_198129.4(LAMA3):c.9202del (p.Trp3068fs) rs1555751529
NM_198129.4(LAMA3):c.9293CCA[1] (p.Thr3099del) rs1555752733
NM_198129.4(LAMA3):c.9352-1G>C rs1057517272
NM_198129.4(LAMA3):c.938del (p.Pro313fs) rs1555684952
NM_198129.4(LAMA3):c.9400del (p.Asp3134fs) rs1555754450
NM_198129.4(LAMA3):c.9512-11T>C rs776372744
NM_198129.4(LAMA3):c.9512-1G>T rs1555754655
NM_198129.4(LAMA3):c.9575del (p.Thr3192fs) rs1057517440
NM_198129.4(LAMA3):c.9597_9599dup (p.Gly3199_Ser3200insArg) rs750402445
NM_198129.4(LAMA3):c.9736+1G>C rs1234435123
NM_198129.4(LAMA3):c.9848del (p.Gly3283fs) rs1555756067
NM_198129.4(LAMA3):c.9980del (p.Leu3327fs) rs1555756775

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.