ClinVar Miner

List of variants in gene LAMB3 studied for Junctional epidermolysis bullosa gravis of Herlitz

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Total variants: 83
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HGVS dbSNP
NM_000228.2(LAMB3):c.2138_2140delGAG (p.Gly713del) rs1553276448
NM_000228.2(LAMB3):c.957_958ins77 (p.?)
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.1090C>T (p.Arg364Trp) rs370699820
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.124C>T (p.Arg42Ter) rs80356680
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.1344_1345del (p.Ser448fs) rs1553277267
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565
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.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.1830G>A (p.Trp610Ter) rs121912484
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392
NM_000228.3(LAMB3):c.2011del (p.Leu671fs) rs1057516822
NM_000228.3(LAMB3):c.2027_2029del (p.Leu676del) rs1553276516
NM_000228.3(LAMB3):c.2036C>T (p.Pro679Leu) rs201223111
NM_000228.3(LAMB3):c.2108_2127del (p.Gln702_Phe703insTer) rs1553276488
NM_000228.3(LAMB3):c.2137+37G>A rs374527059
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.2271_2273AGG[5] (p.Gly761dup) rs752460751
NM_000228.3(LAMB3):c.2271_2273AGG[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.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.2806C>T (p.Gln936Ter) rs121912485
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.2945A>G (p.Asp982Gly) rs140769823
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.31dup (p.Leu11fs) rs777672897
NM_000228.3(LAMB3):c.3250_3251del (p.Lys1084fs) rs1553275219
NM_000228.3(LAMB3):c.3329C>T (p.Thr1110Ile) rs886045859
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.496C>T (p.Gln166Ter) rs121912483
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.565-2A>G rs370148688
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) rs121912486
NM_000228.3(LAMB3):c.628+1G>A rs1057516539
NM_000228.3(LAMB3):c.628+42G>A rs587776812
NM_000228.3(LAMB3):c.69_70del (p.Ala25fs) rs1057516884
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) rs80356681
NM_000228.3(LAMB3):c.822+2dup rs1553278151
NM_000228.3(LAMB3):c.823-1G>T rs778372285
NM_000228.3(LAMB3):c.868T>A (p.Cys290Ser) rs1553277846
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.958_1034dup (p.Asn345fs) rs1553277702
NM_000228.3(LAMB3):c.977del (p.His326fs) rs753711190
NM_000228.3(LAMB3):c.978del (p.Phe327fs) rs763559509

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