ClinVar Miner

List of variants in gene LAMB3 reported as pathogenic

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Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs) rs1553277702 0.00028
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680 0.00006
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392 0.00006
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805 0.00005
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) rs80356681 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_000228.3(LAMB3):c.2914C>T (p.Arg972Ter) rs747916314 0.00003
NM_000228.3(LAMB3):c.565-2A>G rs370148688 0.00003
NM_000228.3(LAMB3):c.1063T>C (p.Cys355Arg) rs532875477 0.00002
NM_000228.3(LAMB3):c.1132+5G>A rs770302956 0.00002
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_000228.3(LAMB3):c.1500C>A (p.Cys500Ter) rs893599116 0.00001
NM_000228.3(LAMB3):c.1594C>T (p.Arg532Ter) rs757145297 0.00001
NM_000228.3(LAMB3):c.2188C>T (p.Gln730Ter) rs1350303547 0.00001
NM_000228.3(LAMB3):c.282G>A (p.Trp94Ter) rs748099677 0.00001
NM_000228.3(LAMB3):c.285G>A (p.Trp95Ter) rs1558163550 0.00001
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter) rs759518184 0.00001
NM_000228.3(LAMB3):c.565-1G>A rs1057516693 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.628G>A (p.Glu210Lys) rs121912482 0.00001
NC_000001.10:g.(?_209788514)_(209825713_?)del
NC_000001.10:g.(?_209798983)_(209812003_?)del
NM_000228.2(LAMB3):c.957_958ins77 (p.?)
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter) rs774174881
NM_000228.3(LAMB3):c.1029_1030del (p.Cys343_Asp344delinsTer)
NM_000228.3(LAMB3):c.1029_1030dup (p.Asp344fs) rs1057517290
NM_000228.3(LAMB3):c.1075C>T (p.Gln359Ter) rs1666607402
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.3(LAMB3):c.1133-22G>A rs767847211
NM_000228.3(LAMB3):c.1156del (p.Ala386fs)
NM_000228.3(LAMB3):c.1172_1179delinsTGTGTGTGCAAGGAG (p.Pro391fs)
NM_000228.3(LAMB3):c.1191del (p.Gln398fs) rs1666542456
NM_000228.3(LAMB3):c.1266C>A (p.Tyr422Ter) rs766227083
NM_000228.3(LAMB3):c.1288+1G>A rs1186161867
NM_000228.3(LAMB3):c.1288+1G>T rs1186161867
NM_000228.3(LAMB3):c.1288+2T>A
NM_000228.3(LAMB3):c.1289-2_1296del rs2102424525
NM_000228.3(LAMB3):c.1289_1301del (p.Arg430fs)
NM_000228.3(LAMB3):c.1293_1294del (p.Cys431_Asp432delinsTer)
NM_000228.3(LAMB3):c.1319_1322del (p.Arg440fs)
NM_000228.3(LAMB3):c.1336G>T (p.Glu446Ter) rs749069550
NM_000228.3(LAMB3):c.1344_1345del (p.Ser448fs) rs1553277267
NM_000228.3(LAMB3):c.1357del (p.Cys453fs)
NM_000228.3(LAMB3):c.1410G>A (p.Trp470Ter)
NM_000228.3(LAMB3):c.1426C>T (p.Gln476Ter) rs1666507638
NM_000228.3(LAMB3):c.1427dup (p.Cys478fs) rs2102424137
NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs) rs786205095
NM_000228.3(LAMB3):c.1449C>A (p.Cys483Ter)
NM_000228.3(LAMB3):c.1552C>T (p.Gln518Ter)
NM_000228.3(LAMB3):c.155del (p.Pro52fs)
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs) rs769151482
NM_000228.3(LAMB3):c.1593C>A (p.Cys531Ter)
NM_000228.3(LAMB3):c.1619del (p.Gly540fs)
NM_000228.3(LAMB3):c.1628dup (p.Cys546fs)
NM_000228.3(LAMB3):c.1634del (p.Gly545fs) rs1666434871
NM_000228.3(LAMB3):c.1657del (p.Cys553fs) rs2102420949
NM_000228.3(LAMB3):c.1676del (p.Gly558_Leu559insTer) rs1666431089
NM_000228.3(LAMB3):c.1702C>T (p.Gln568Ter) rs1571810782
NM_000228.3(LAMB3):c.1792_1793insT (p.Arg598fs)
NM_000228.3(LAMB3):c.1814_1827del (p.Ala605fs) rs1666418404
NM_000228.3(LAMB3):c.1829G>A (p.Trp610Ter)
NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter) rs121912484
NM_000228.3(LAMB3):c.1846G>T (p.Glu616Ter)
NM_000228.3(LAMB3):c.1897C>T (p.Gln633Ter) rs2102420131
NM_000228.3(LAMB3):c.1900_1909del (p.Ile634fs) rs2102420104
NM_000228.3(LAMB3):c.1939G>T (p.Glu647Ter) rs1666408900
NM_000228.3(LAMB3):c.1948C>T (p.Gln650Ter)
NM_000228.3(LAMB3):c.2014del (p.Glu672fs) rs2102416503
NM_000228.3(LAMB3):c.2047del (p.Glu683fs) rs1666320034
NM_000228.3(LAMB3):c.207_208dup (p.Asp70fs)
NM_000228.3(LAMB3):c.2116del (p.Lys705_Ile706insTer)
NM_000228.3(LAMB3):c.2166C>G (p.Tyr722Ter) rs552611500
NM_000228.3(LAMB3):c.217C>T (p.Gln73Ter) rs762234799
NM_000228.3(LAMB3):c.221_225del (p.Pro74fs) rs2102446289
NM_000228.3(LAMB3):c.2242G>T (p.Glu748Ter)
NM_000228.3(LAMB3):c.225_226del (p.His75fs) rs886045870
NM_000228.3(LAMB3):c.2269G>T (p.Gly757Ter)
NM_000228.3(LAMB3):c.2275G>T (p.Gly759Ter) rs780424034
NM_000228.3(LAMB3):c.2288del (p.Gly763fs) rs886041893
NM_000228.3(LAMB3):c.2296_2308del (p.Pro765_Lys766insTer)
NM_000228.3(LAMB3):c.2300_2301dup (p.Val768fs) rs1666291169
NM_000228.3(LAMB3):c.2346del (p.Thr783fs) rs1057516486
NM_000228.3(LAMB3):c.2362_2372del (p.Cys788fs) rs1375506940
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter) rs1064793896
NM_000228.3(LAMB3):c.2422C>T (p.Gln808Ter) rs1666268592
NM_000228.3(LAMB3):c.2454C>A (p.Cys818Ter)
NM_000228.3(LAMB3):c.2478dup (p.Gly827fs)
NM_000228.3(LAMB3):c.2495del (p.Ala832fs)
NM_000228.3(LAMB3):c.2516del (p.Leu839fs) rs1553276216
NM_000228.3(LAMB3):c.2533C>T (p.Gln845Ter) rs1571804681
NM_000228.3(LAMB3):c.2551C>T (p.Gln851Ter) rs1571804630
NM_000228.3(LAMB3):c.2606_2658dup (p.Arg887delinsAlaTrpArgProArgTer)
NM_000228.3(LAMB3):c.2613_2614del (p.Glu871fs) rs2102413026
NM_000228.3(LAMB3):c.2712dup (p.Asp905Ter)
NM_000228.3(LAMB3):c.2768_2769del (p.Thr923fs) rs1558148080
NM_000228.3(LAMB3):c.2788C>T (p.Gln930Ter) rs2102406831
NM_000228.3(LAMB3):c.2806C>T (p.Gln936Ter) rs121912485
NM_000228.3(LAMB3):c.2823del (p.Arg941fs)
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.2872del (p.Arg958fs) rs2102406610
NM_000228.3(LAMB3):c.2910-1G>A rs2102405986
NM_000228.3(LAMB3):c.2975del (p.Val992fs)
NM_000228.3(LAMB3):c.3024del (p.Arg1009fs) rs777292177
NM_000228.3(LAMB3):c.3034C>T (p.Gln1012Ter) rs1057516756
NM_000228.3(LAMB3):c.3079A>T (p.Lys1027Ter) rs2102405073
NM_000228.3(LAMB3):c.308del (p.Pro103fs) rs1553279073
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter) rs1057516759
NM_000228.3(LAMB3):c.3148del (p.Ala1050fs)
NM_000228.3(LAMB3):c.3163del (p.Ala1055fs)
NM_000228.3(LAMB3):c.3190_3191delinsTA (p.Ala1064Ter)
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897
NM_000228.3(LAMB3):c.3228+1G>A rs778026407
NM_000228.3(LAMB3):c.3228+2T>A
NM_000228.3(LAMB3):c.3239_3240del (p.Arg1080fs) rs985107396
NM_000228.3(LAMB3):c.323T>C (p.Leu108Pro) rs1464871076
NM_000228.3(LAMB3):c.3247C>T (p.Gln1083Ter) rs2102403618
NM_000228.3(LAMB3):c.328del (p.Leu110fs)
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter) rs1553275195
NM_000228.3(LAMB3):c.3383-1G>A rs1553275070
NM_000228.3(LAMB3):c.3394dup (p.Glu1132fs) rs786201004
NM_000228.3(LAMB3):c.3431C>A (p.Ser1144Ter) rs869320671
NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs) rs1553275034
NM_000228.3(LAMB3):c.3463_3475del (p.Glu1155fs)
NM_000228.3(LAMB3):c.349C>T (p.Gln117Ter) rs2102444886
NM_000228.3(LAMB3):c.364G>T (p.Glu122Ter)
NM_000228.3(LAMB3):c.370C>T (p.Gln124Ter)
NM_000228.3(LAMB3):c.378_387del (p.Met127fs)
NM_000228.3(LAMB3):c.422dup (p.Thr142fs) rs1455026782
NM_000228.3(LAMB3):c.428G>A (p.Trp143Ter) rs2102438650
NM_000228.3(LAMB3):c.429G>A (p.Trp143Ter) rs369555024
NM_000228.3(LAMB3):c.435_436del (p.Tyr146fs) rs1666824858
NM_000228.3(LAMB3):c.436dup (p.Tyr146fs) rs1666824711
NM_000228.3(LAMB3):c.484C>T (p.Gln162Ter) rs2102438416
NM_000228.3(LAMB3):c.496C>T (p.Gln166Ter) rs121912483
NM_000228.3(LAMB3):c.499_500del (p.Ser167fs) rs1057516241
NM_000228.3(LAMB3):c.504G>A (p.Trp168Ter) rs1163346468
NM_000228.3(LAMB3):c.52C>T (p.Gln18Ter) rs777231178
NM_000228.3(LAMB3):c.55C>T (p.Gln19Ter) rs200672750
NM_000228.3(LAMB3):c.565-1G>C
NM_000228.3(LAMB3):c.565-3T>C rs587776813
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) rs121912486
NM_000228.3(LAMB3):c.613dup (p.Ser205fs)
NM_000228.3(LAMB3):c.616C>T (p.Gln206Ter) rs775405524
NM_000228.3(LAMB3):c.619A>C (p.Lys207Gln) rs121912487
NM_000228.3(LAMB3):c.622del (p.Ile208fs) rs768303931
NM_000228.3(LAMB3):c.629-12T>A
NM_000228.3(LAMB3):c.629-1G>A rs587776814
NM_000228.3(LAMB3):c.667del (p.Arg223fs) rs2102434789
NM_000228.3(LAMB3):c.696C>A (p.Tyr232Ter)
NM_000228.3(LAMB3):c.69_70del (p.Ala25fs) rs1057516884
NM_000228.3(LAMB3):c.76dup (p.Cys26fs) rs1553281335
NM_000228.3(LAMB3):c.806_807del (p.Pro269fs)
NM_000228.3(LAMB3):c.810del (p.Thr271fs)
NM_000228.3(LAMB3):c.823-1G>A rs778372285
NM_000228.3(LAMB3):c.823-1G>T rs778372285
NM_000228.3(LAMB3):c.823-2A>C
NM_000228.3(LAMB3):c.823-2A>T rs2102430895
NM_000228.3(LAMB3):c.863del (p.Pro288fs)
NM_000228.3(LAMB3):c.877T>A (p.Cys293Ser)
NM_000228.3(LAMB3):c.903dup (p.Trp302fs)
NM_000228.3(LAMB3):c.904del (p.Trp302fs) rs786205094
NM_000228.3(LAMB3):c.906G>A (p.Trp302Ter)
NM_000228.3(LAMB3):c.939C>A (p.Cys313Ter)
NM_000228.3(LAMB3):c.948C>A (p.Cys316Ter) rs779681550
NM_000228.3(LAMB3):c.967G>T (p.Glu323Ter)
NM_000228.3(LAMB3):c.975T>A (p.Cys325Ter) rs1666615300

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