ClinVar Miner

List of variants in gene LAMB3 studied for Junctional epidermolysis bullosa

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Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.2702-12dup rs397807887 0.95488
NM_000228.3(LAMB3):c.823-15C>T rs4844863 0.84219
NM_000228.2(LAMB3):c.*403A>G rs926387 0.75295
NM_000228.3(LAMB3):c.1716T>C (p.Cys572=) rs2179402 0.74805
NM_000228.3(LAMB3):c.291A>C (p.Ser97=) rs2076356 0.56410
NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=) rs1049607 0.44327
NM_000228.3(LAMB3):c.384C>T (p.Pro128=) rs1130667 0.30741
NM_000228.3(LAMB3):c.*102C>T rs2566 0.27226
NM_000228.3(LAMB3):c.138C>T (p.Thr46=) rs2228339 0.25110
NM_000228.3(LAMB3):c.1579G>A (p.Val527Met) rs2076349 0.12644
NM_000228.3(LAMB3):c.2673A>G (p.Leu891=) rs3179860 0.11219
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu) rs12748250 0.11215
NM_000228.3(LAMB3):c.1149G>A (p.Pro383=) rs2076351 0.05772
NM_000228.3(LAMB3):c.1312T>A (p.Ser438Thr) rs2229468 0.04067
NM_000228.3(LAMB3):c.3448C>T (p.Leu1150=) rs2228342 0.03922
NM_000228.3(LAMB3):c.2702-14G>A rs199838217 0.02820
NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=) rs2229465 0.02743
NM_000228.3(LAMB3):c.2777C>A (p.Ala926Asp) rs2076222 0.02691
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=) rs2072937 0.02665
NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser) rs2229466 0.02614
NM_000228.3(LAMB3):c.541A>G (p.Asn181Asp) rs2235542 0.02610
NM_000228.3(LAMB3):c.564+10G>A rs12410975 0.02306
NM_000228.3(LAMB3):c.2723C>T (p.Thr908Ile) rs61753424 0.01891
NM_000228.3(LAMB3):c.2556+13G>A rs113339950 0.01851
NM_000228.3(LAMB3):c.2542C>T (p.Arg848Trp) rs59260335 0.01279
NM_000228.3(LAMB3):c.1015T>C (p.Tyr339His) rs52814161 0.01066
NM_000228.3(LAMB3):c.2260C>T (p.Arg754Trp) rs62637710 0.00948
NM_000228.3(LAMB3):c.689G>C (p.Arg230Thr) rs61734502 0.00697
NM_000228.2(LAMB3):c.*402C>T rs12074071 0.00372
NM_000228.3(LAMB3):c.1439C>T (p.Pro480Leu) rs61734494 0.00363
NM_000228.3(LAMB3):c.372+10C>T rs192386323 0.00302
NM_000228.3(LAMB3):c.2286C>T (p.Thr762=) rs11555726 0.00282
NM_000228.3(LAMB3):c.867T>C (p.Asn289=) rs115579649 0.00254
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.3124C>T (p.Arg1042Trp) rs114040223 0.00132
NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly) rs140769823 0.00116
NM_000228.3(LAMB3):c.2359-15G>A rs147708427 0.00111
NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys) rs114875539 0.00107
NM_000228.3(LAMB3):c.1194G>A (p.Gln398=) rs116602483 0.00103
NM_000228.3(LAMB3):c.2933G>C (p.Gly978Ala) rs138748613 0.00102
NM_000228.3(LAMB3):c.1413G>A (p.Lys471=) rs112316651 0.00096
NM_000228.3(LAMB3):c.548G>A (p.Arg183His) rs150895872 0.00088
NM_000228.3(LAMB3):c.1188C>T (p.Thr396=) rs115883756 0.00082
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000228.3(LAMB3):c.2298G>A (p.Lys766=) rs113745536 0.00048
NM_000228.3(LAMB3):c.67C>T (p.Arg23Cys) rs115191959 0.00047
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.2403C>T (p.Cys801=) rs115279528 0.00017
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.734G>A (p.Arg245His) rs114886812 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.1667G>A (p.Arg556His) rs371013768 0.00005
NM_000228.3(LAMB3):c.1793G>A (p.Arg598His) rs139555809 0.00005
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) rs80356681 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.1236A>G (p.Leu412=) rs202113091 0.00003
NM_000228.3(LAMB3):c.1616G>A (p.Arg539Gln) rs530692211 0.00003
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.2914C>T (p.Arg972Ter) rs747916314 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.1063T>C (p.Cys355Arg) rs532875477 0.00002
NM_000228.3(LAMB3):c.1132+5G>A rs770302956 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.*137T>C rs549169984 0.00001
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.1756C>T (p.Gln586Ter) rs749842554 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.430C>T (p.Arg144Ter) rs759518184 0.00001
NM_000228.3(LAMB3):c.475C>T (p.Arg159Trp) rs116472735 0.00001
NM_000228.3(LAMB3):c.628+1G>A rs1057516539 0.00001
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys) rs121912482 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.*262G>A rs371579247
NM_000228.3(LAMB3):c.*70G>A rs368450102
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.3(LAMB3):c.1288C>T (p.Arg430Cys) rs767490741
NM_000228.3(LAMB3):c.1336G>T (p.Glu446Ter) rs749069550
NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs) rs786205095
NM_000228.3(LAMB3):c.1450G>T (p.Asp484Tyr) rs372654158
NM_000228.3(LAMB3):c.1486-1G>A rs1418276828
NM_000228.3(LAMB3):c.1536C>A (p.Ser512Arg) rs375260663
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs) rs769151482
NM_000228.3(LAMB3):c.1634del (p.Gly545fs) rs1666434871
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.2047del (p.Glu683fs) rs1666320034
NM_000228.3(LAMB3):c.225_226del (p.His75fs) rs886045870
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter) rs1064793896
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.2685_2701+2del rs1571803654
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.3009C>T (p.Gly1003=)
NM_000228.3(LAMB3):c.3025C>T (p.Arg1009Trp) rs758678733
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter) rs1057516759
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.3228+1G>A rs778026407
NM_000228.3(LAMB3):c.323T>C (p.Leu108Pro) rs1464871076
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.429G>A (p.Trp143Ter) rs369555024
NM_000228.3(LAMB3):c.557G>A (p.Gly186Glu) rs200501999
NM_000228.3(LAMB3):c.622del (p.Ile208fs) rs768303931
NM_000228.3(LAMB3):c.858C>T (p.Ala286=) rs200006309
NM_000228.3(LAMB3):c.877T>A (p.Cys293Ser)
NM_000228.3(LAMB3):c.927C>T (p.Asp309=) rs141059189
NM_000228.3(LAMB3):c.943A>C (p.Arg315=) rs886045867

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