ClinVar Miner

List of variants in gene LAMB3 reported as likely pathogenic by Counsyl

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805 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.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.1597+1G>T rs1553277072 0.00001
NM_000228.3(LAMB3):c.628+1G>A rs1057516539 0.00001
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.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.1486-1G>A rs1418276828
NM_000228.3(LAMB3):c.183+2T>C rs1553281291
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.225_226del (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.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.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.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.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

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