ClinVar Miner

List of variants in gene LAMB3 reported as uncertain significance for Junctional epidermolysis bullosa

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Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.15C>T (p.Phe5=) rs140470350 0.00190
NM_000228.3(LAMB3):c.*124C>T rs185362831 0.00143
NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly) rs140769823 0.00116
NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys) rs114875539 0.00107
NM_000228.3(LAMB3):c.548G>A (p.Arg183His) rs150895872 0.00088
NM_000228.3(LAMB3):c.2298G>A (p.Lys766=) rs113745536 0.00048
NM_000228.3(LAMB3):c.777C>T (p.Cys259=) rs146529524 0.00047
NM_000228.3(LAMB3):c.547C>T (p.Arg183Cys) rs116124880 0.00038
NM_000228.3(LAMB3):c.2202C>T (p.Asp734=) rs140720448 0.00034
NM_000228.3(LAMB3):c.3404G>A (p.Arg1135Gln) rs115712132 0.00025
NM_000228.3(LAMB3):c.1868G>A (p.Arg623Gln) rs145841733 0.00023
NM_000228.3(LAMB3):c.3068G>A (p.Arg1023Gln) rs147527725 0.00022
NM_000228.3(LAMB3):c.1549C>T (p.Arg517Cys) rs78788119 0.00020
NM_000228.3(LAMB3):c.582G>T (p.Met194Ile) rs75876132 0.00019
NM_000228.3(LAMB3):c.911C>T (p.Pro304Leu) rs114394307 0.00019
NM_000228.3(LAMB3):c.3061G>C (p.Val1021Leu) rs376701500 0.00017
NM_000228.3(LAMB3):c.*275C>T rs188120955 0.00016
NM_000228.3(LAMB3):c.1090C>T (p.Arg364Trp) rs370699820 0.00016
NM_000228.3(LAMB3):c.3479A>G (p.His1160Arg) rs147931502 0.00016
NM_000228.3(LAMB3):c.*392C>T rs558747584 0.00013
NM_000228.3(LAMB3):c.1546A>G (p.Ile516Val) rs148988085 0.00012
NM_000228.3(LAMB3):c.2640G>C (p.Gln880His) rs200322380 0.00012
NM_000228.3(LAMB3):c.3323T>G (p.Val1108Gly) rs150859715 0.00012
NM_000228.3(LAMB3):c.773G>A (p.Arg258His) rs568932560 0.00012
NM_000228.3(LAMB3):c.1516T>A (p.Phe506Ile) rs145548817 0.00011
NM_000228.3(LAMB3):c.2475C>T (p.Ala825=) rs550033087 0.00011
NM_000228.3(LAMB3):c.3368T>A (p.Met1123Lys) rs78483218 0.00011
NM_000228.3(LAMB3):c.1565G>A (p.Arg522Gln) rs144249951 0.00010
NM_000228.3(LAMB3):c.671T>C (p.Leu224Pro) rs138986366 0.00010
NM_000228.3(LAMB3):c.3016C>T (p.Arg1006Cys) rs376701936 0.00009
NM_000228.3(LAMB3):c.1008G>A (p.Gln336=) rs114404740 0.00008
NM_000228.3(LAMB3):c.1328C>T (p.Pro443Leu) rs202096620 0.00008
NM_000228.3(LAMB3):c.*132G>A rs1032008103 0.00006
NM_000228.3(LAMB3):c.1267G>A (p.Ala423Thr) rs139404117 0.00006
NM_000228.3(LAMB3):c.2564C>G (p.Ala855Gly) rs151006337 0.00006
NM_000228.3(LAMB3):c.267C>T (p.Ser89=) rs143833060 0.00006
NM_000228.3(LAMB3):c.813C>T (p.Thr271=) rs146690433 0.00006
NM_000228.3(LAMB3):c.1666C>T (p.Arg556Cys) rs745365535 0.00005
NM_000228.3(LAMB3):c.1793G>A (p.Arg598His) rs139555809 0.00005
NM_000228.3(LAMB3):c.*279G>A rs566086702 0.00004
NM_000228.3(LAMB3):c.1536C>T (p.Ser512=) rs375260663 0.00004
NM_000228.3(LAMB3):c.1615C>T (p.Arg539Trp) rs200300715 0.00004
NM_000228.3(LAMB3):c.242G>A (p.Arg81Gln) rs978039540 0.00004
NM_000228.3(LAMB3):c.2447C>T (p.Ser816Phe) rs568428420 0.00004
NM_000228.3(LAMB3):c.2697A>G (p.Leu899=) rs115431256 0.00004
NM_000228.3(LAMB3):c.2831A>G (p.Asn944Ser) rs567776263 0.00004
NM_000228.3(LAMB3):c.914C>T (p.Ala305Val) rs756331697 0.00004
NM_000228.3(LAMB3):c.1670C>T (p.Pro557Leu) rs746700898 0.00003
NM_000228.3(LAMB3):c.2359-3C>T rs1040089458 0.00003
NM_000228.3(LAMB3):c.2419C>A (p.Pro807Thr) rs764501504 0.00003
NM_000228.3(LAMB3):c.3151C>T (p.Arg1051Trp) rs527365033 0.00003
NM_000228.3(LAMB3):c.3152G>A (p.Arg1051Gln) rs751750658 0.00003
NM_000228.3(LAMB3):c.3204C>T (p.Ser1068=) rs768257008 0.00003
NM_000228.3(LAMB3):c.707G>C (p.Ser236Thr) rs750934724 0.00003
NM_000228.3(LAMB3):c.79T>C (p.Tyr27His) rs757278127 0.00003
NM_000228.3(LAMB3):c.*224G>A rs1387953960 0.00002
NM_000228.3(LAMB3):c.1151A>G (p.Asp384Gly) rs115433823 0.00002
NM_000228.3(LAMB3):c.1807C>T (p.Arg603Cys) rs374239232 0.00002
NM_000228.3(LAMB3):c.2473G>A (p.Ala825Thr) rs766978893 0.00002
NM_000228.3(LAMB3):c.2646G>A (p.Glu882=) rs372188386 0.00002
NM_000228.3(LAMB3):c.859G>A (p.Gly287Ser) rs144788254 0.00002
NM_000228.3(LAMB3):c.978del (p.Phe327fs) rs763559509 0.00002
NM_000228.3(LAMB3):c.1016A>G (p.Tyr339Cys) rs747255131 0.00001
NM_000228.3(LAMB3):c.1586C>T (p.Thr529Ile) rs754971420 0.00001
NM_000228.3(LAMB3):c.1592G>T (p.Cys531Phe) rs886045865 0.00001
NM_000228.3(LAMB3):c.2157C>T (p.Ser719=) rs757647232 0.00001
NM_000228.3(LAMB3):c.2397A>G (p.Ile799Met) rs114544692 0.00001
NM_000228.3(LAMB3):c.2665C>T (p.Arg889Trp) rs201003237 0.00001
NM_000228.3(LAMB3):c.271C>A (p.Pro91Thr) rs371036275 0.00001
NM_000228.3(LAMB3):c.3051+9T>C rs978094347 0.00001
NM_000228.3(LAMB3):c.3329C>T (p.Thr1110Ile) rs886045859 0.00001
NM_000228.3(LAMB3):c.475C>T (p.Arg159Trp) rs116472735 0.00001
NM_000228.3(LAMB3):c.876C>T (p.Arg292=) rs886045868 0.00001
NM_000228.3(LAMB3):c.970A>G (p.Thr324Ala) rs886045866 0.00001
NM_000228.3(LAMB3):c.1288C>T (p.Arg430Cys) rs767490741
NM_000228.3(LAMB3):c.1450G>T (p.Asp484Tyr) rs372654158
NM_000228.3(LAMB3):c.1536C>A (p.Ser512Arg) rs375260663
NM_000228.3(LAMB3):c.1734C>T (p.Cys578=) rs138710333
NM_000228.3(LAMB3):c.1748C>A (p.Pro583His) rs1174928209
NM_000228.3(LAMB3):c.1970C>A (p.Ser657Tyr) rs1666407308
NM_000228.3(LAMB3):c.2011del (p.Leu671fs) rs1057516822
NM_000228.3(LAMB3):c.225_226del (p.His75fs) rs886045870
NM_000228.3(LAMB3):c.2496G>A (p.Ala832=) rs759999121
NM_000228.3(LAMB3):c.2568C>T (p.Ala856=) rs148395967
NM_000228.3(LAMB3):c.2615C>A (p.Thr872Asn) rs756505234
NM_000228.3(LAMB3):c.2873G>A (p.Arg958His) rs142984572
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp) rs2229467
NM_000228.3(LAMB3):c.2968G>A (p.Gly990Arg) rs886045863
NM_000228.3(LAMB3):c.298+2T>C rs1057517312
NM_000228.3(LAMB3):c.3007G>A (p.Gly1003Ser) rs886045862
NM_000228.3(LAMB3):c.3025C>T (p.Arg1009Trp) rs758678733
NM_000228.3(LAMB3):c.3154C>A (p.Gln1052Lys) rs886045861
NM_000228.3(LAMB3):c.3211G>A (p.Ala1071Thr) rs746310687
NM_000228.3(LAMB3):c.3318G>C (p.Gln1106His) rs886045860
NM_000228.3(LAMB3):c.3382+8A>G rs886045858
NM_000228.3(LAMB3):c.3416C>T (p.Ala1139Val) rs1665918950
NM_000228.3(LAMB3):c.373-15C>T rs377371473
NM_000228.3(LAMB3):c.388G>T (p.Gly130Cys) rs769334793
NM_000228.3(LAMB3):c.557G>A (p.Gly186Glu) rs200501999
NM_000228.3(LAMB3):c.858C>T (p.Ala286=) rs200006309
NM_000228.3(LAMB3):c.927C>T (p.Asp309=) rs141059189
NM_000228.3(LAMB3):c.943A>C (p.Arg315=) rs886045867

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