ClinVar Miner

List of variants in gene L1CAM studied for not provided

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Gene type:
ClinVar version:
Total variants: 286
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.1268-114= rs5945359 0.99999
NM_001278116.2(L1CAM):c.2209-6C>T rs7885771 0.05725
NM_001278116.2(L1CAM):c.3458-34C>T rs7052999 0.05302
NM_001278116.2(L1CAM):c.3457+53C>T rs137915897 0.04426
NM_001278116.2(L1CAM):c.2431+147C>A rs4646266 0.04368
NM_001278116.2(L1CAM):c.1268-10C>T rs112841948 0.03467
NM_001278116.2(L1CAM):c.1939+98C>T rs55666951 0.03451
NM_001278116.2(L1CAM):c.855C>T (p.Ala285=) rs1042512 0.03189
NM_001278116.2(L1CAM):c.807-61G>C rs149290876 0.03149
NM_001278116.2(L1CAM):c.77-248G>A rs149814383 0.02769
NM_001278116.2(L1CAM):c.197+17G>A rs5987174 0.02545
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=) rs5987173 0.01697
NM_001278116.2(L1CAM):c.76+232G>T rs12388940 0.01477
NM_001278116.2(L1CAM):c.1704-14C>T rs140240430 0.01472
NM_001278116.2(L1CAM):c.77-132C>A rs73627232 0.01445
NM_001278116.2(L1CAM):c.*203G>C rs150098621 0.01438
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val) rs35902890 0.01086
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=) rs35151382 0.01040
NM_001278116.2(L1CAM):c.400+156T>C rs192998082 0.01006
NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser) rs144605615 0.00970
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=) rs143382184 0.00854
NM_001278116.2(L1CAM):c.2431+329T>C rs191234163 0.00633
NM_001278116.2(L1CAM):c.400+55G>A rs143000476 0.00558
NM_001278116.2(L1CAM):c.992-59G>A rs150150448 0.00534
NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=) rs73640833 0.00445
NM_001278116.2(L1CAM):c.992-32C>T rs191412165 0.00352
NM_001278116.2(L1CAM):c.76+225G>A rs188830982 0.00351
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) rs139393266 0.00285
NC_000023.11:g.153859456A>G rs868935535 0.00267
NM_001278116.2(L1CAM):c.76+55C>T rs186040141 0.00201
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625 0.00131
NM_001278116.2(L1CAM):c.694+55G>A rs782068934 0.00091
NM_001278116.2(L1CAM):c.3543-22C>A rs199975913 0.00074
NM_001278116.2(L1CAM):c.1267+101G>A rs782529935 0.00057
NM_001278116.2(L1CAM):c.964C>T (p.Arg322Trp) rs144692079 0.00048
NM_001278116.2(L1CAM):c.2432-86G>A rs782039832 0.00037
NM_001278116.2(L1CAM):c.3441G>A (p.Lys1147=) rs199661695 0.00037
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_001278116.2(L1CAM):c.630C>T (p.His210=) rs28933683 0.00031
NM_001278116.2(L1CAM):c.1547-4T>A rs200148275 0.00030
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=) rs142563956 0.00028
NM_001278116.2(L1CAM):c.984C>T (p.Thr328=) rs200638763 0.00028
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=) rs145823218 0.00021
NM_001278116.2(L1CAM):c.1547-18C>T rs200876938 0.00018
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) rs149309725 0.00017
NM_001278116.2(L1CAM):c.3327C>T (p.Arg1109=) rs150419364 0.00017
NM_001278116.2(L1CAM):c.294G>A (p.Thr98=) rs4898371 0.00014
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) rs201204893 0.00014
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu) rs200815347 0.00012
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) rs199592861 0.00010
NM_001278116.2(L1CAM):c.1293G>A (p.Ala431=) rs137967792 0.00009
NM_001278116.2(L1CAM):c.1547-14C>T rs145192924 0.00009
NM_001278116.2(L1CAM):c.3735G>A (p.Gly1245=) rs200206375 0.00009
NM_001278116.2(L1CAM):c.3710C>T (p.Ala1237Val) rs370546591 0.00008
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_001278116.2(L1CAM):c.3434G>A (p.Arg1145His) rs952497509 0.00007
NM_001278116.2(L1CAM):c.618C>A (p.Asp206Glu) rs201474883 0.00007
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=) rs200768501 0.00006
NM_001278116.2(L1CAM):c.2721C>T (p.Ser907=) rs200799618 0.00006
NM_001278116.2(L1CAM):c.2872+9G>A rs398123363 0.00005
NM_001278116.2(L1CAM):c.798C>T (p.Ala266=) rs111597352 0.00005
NM_001278116.2(L1CAM):c.197+43A>G rs782420578 0.00004
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr) rs782752037 0.00004
NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln) rs200809259 0.00004
NM_001278116.2(L1CAM):c.1050C>T (p.Ala350=) rs182851917 0.00003
NM_001278116.2(L1CAM):c.1261G>A (p.Val421Ile) rs200006286 0.00003
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn) rs148516831 0.00003
NM_001278116.2(L1CAM):c.3523G>A (p.Glu1175Lys) rs1064796541 0.00003
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) rs201978087 0.00003
NM_001278116.2(L1CAM):c.1249G>A (p.Ala417Thr) rs782331927 0.00002
NM_001278116.2(L1CAM):c.1379+3G>A rs782455321 0.00002
NM_001278116.2(L1CAM):c.1387G>A (p.Glu463Lys) rs202175564 0.00002
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp) rs1298830102 0.00002
NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=) rs201372074 0.00002
NM_001278116.2(L1CAM):c.1978G>A (p.Glu660Lys) rs200688598 0.00002
NM_001278116.2(L1CAM):c.202C>T (p.Arg68Cys) rs1172761444 0.00002
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) rs202082978 0.00002
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His) rs782420127 0.00002
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=) rs782223025 0.00002
NM_001278116.2(L1CAM):c.943G>A (p.Glu315Lys) rs782423426 0.00002
NM_001278116.2(L1CAM):c.1143G>A (p.Lys381=) rs1185735801 0.00001
NM_001278116.2(L1CAM):c.1180G>A (p.Val394Met) rs782477425 0.00001
NM_001278116.2(L1CAM):c.1379+7G>A rs1557092040 0.00001
NM_001278116.2(L1CAM):c.1418G>A (p.Arg473His) rs782516225 0.00001
NM_001278116.2(L1CAM):c.1546+6G>A rs202154173 0.00001
NM_001278116.2(L1CAM):c.1841C>T (p.Pro614Leu) rs1557091552 0.00001
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met) rs398123360 0.00001
NM_001278116.2(L1CAM):c.1894C>G (p.Arg632Gly) rs782367123 0.00001
NM_001278116.2(L1CAM):c.2105C>T (p.Pro702Leu) rs782568205 0.00001
NM_001278116.2(L1CAM):c.2179G>A (p.Glu727Lys) rs1386982536 0.00001
NM_001278116.2(L1CAM):c.219T>C (p.Gly73=) rs1443862182 0.00001
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met) rs137852525 0.00001
NM_001278116.2(L1CAM):c.2722G>A (p.Glu908Lys) rs199822230 0.00001
NM_001278116.2(L1CAM):c.2758C>T (p.His920Tyr) rs2064701743 0.00001
NM_001278116.2(L1CAM):c.2763C>T (p.Pro921=) rs781813303 0.00001
NM_001278116.2(L1CAM):c.3000C>T (p.Gly1000=) rs149420127 0.00001
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) rs1557090130 0.00001
NM_001278116.2(L1CAM):c.33C>T (p.Leu11=) rs199910719 0.00001
NM_001278116.2(L1CAM):c.3449A>G (p.Lys1150Arg) rs1391080419 0.00001
NM_001278116.2(L1CAM):c.3496C>T (p.Arg1166Ter) rs1418885000 0.00001
NM_001278116.2(L1CAM):c.3543-11T>C rs782225211 0.00001
NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His) rs1369743518 0.00001
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=) rs375862497 0.00001
NM_001278116.2(L1CAM):c.666G>A (p.Lys222=) rs782615469 0.00001
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=) rs200813995 0.00001
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His) rs200402620 0.00001
NM_001278116.2(L1CAM):c.92-180C>T rs976809372 0.00001
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys) rs367665974 0.00001
NM_001278116.2(L1CAM):c.*159T>C rs2148491713
NM_001278116.2(L1CAM):c.-31C>G rs2855584
NM_001278116.2(L1CAM):c.1021A>C (p.Ser341Arg) rs398123359
NM_001278116.2(L1CAM):c.1028_1032dup (p.Gly345fs) rs1557092418
NM_001278116.2(L1CAM):c.1066G>T (p.Val356Phe)
NM_001278116.2(L1CAM):c.1103T>A (p.Ile368Asn) rs2148497631
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_001278116.2(L1CAM):c.1118T>C (p.Val373Ala)
NM_001278116.2(L1CAM):c.1120G>T (p.Glu374Ter) rs202070860
NM_001278116.2(L1CAM):c.1123+5G>A rs1557092385
NM_001278116.2(L1CAM):c.1146C>G (p.Tyr382Ter) rs886041704
NM_001278116.2(L1CAM):c.114G>A (p.Thr38=)
NM_001278116.2(L1CAM):c.1166del (p.Leu389fs)
NM_001278116.2(L1CAM):c.1205C>G (p.Thr402Ser) rs1222808372
NM_001278116.2(L1CAM):c.122C>G (p.Ser41Cys)
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val)
NM_001278116.2(L1CAM):c.124C>T (p.Pro42Ser)
NM_001278116.2(L1CAM):c.1267+1G>A rs1557092247
NM_001278116.2(L1CAM):c.1267C>T (p.Gln423Ter) rs1557092248
NM_001278116.2(L1CAM):c.1292C>A (p.Ala431Glu) rs782779421
NM_001278116.2(L1CAM):c.1310T>C (p.Met437Thr)
NM_001278116.2(L1CAM):c.1316T>C (p.Val439Ala) rs797044634
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_001278116.2(L1CAM):c.1365del (p.Ser457fs)
NM_001278116.2(L1CAM):c.1379G>A (p.Trp460Ter) rs1557092042
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) rs1064793163
NM_001278116.2(L1CAM):c.1411G>A (p.Asp471Asn) rs1603275442
NM_001278116.2(L1CAM):c.1414G>A (p.Glu472Lys)
NM_001278116.2(L1CAM):c.1417C>T (p.Arg473Cys) rs886039408
NM_001278116.2(L1CAM):c.1429del (p.Tyr477fs) rs2148496739
NM_001278116.2(L1CAM):c.1445T>C (p.Leu482Pro) rs1064794246
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter) rs886039407
NM_001278116.2(L1CAM):c.1469_1474del (p.Asn490_Asp491del) rs1085307881
NM_001278116.2(L1CAM):c.1475C>T (p.Thr492Ile) rs2148496683
NM_001278116.2(L1CAM):c.1485C>G (p.Tyr495Ter) rs1131691964
NM_001278116.2(L1CAM):c.1633C>T (p.Pro545Ser) rs782513182
NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter) rs1557091773
NM_001278116.2(L1CAM):c.1678C>T (p.Leu560Phe) rs1414810082
NM_001278116.2(L1CAM):c.1704-18_1704-15del rs782806330
NM_001278116.2(L1CAM):c.1704-1G>A rs1557091678
NM_001278116.2(L1CAM):c.170G>A (p.Cys57Tyr) rs1057517755
NM_001278116.2(L1CAM):c.1767C>A (p.Tyr589Ter) rs377470679
NM_001278116.2(L1CAM):c.177del (p.Ser60fs) rs886039404
NM_001278116.2(L1CAM):c.1780del (p.Ser594fs) rs1557091629
NM_001278116.2(L1CAM):c.179G>T (p.Ser60Ile)
NM_001278116.2(L1CAM):c.1828+1G>A rs2148496168
NM_001278116.2(L1CAM):c.1828+5G>A rs1064793164
NM_001278116.2(L1CAM):c.1828+5G>T rs1064793164
NM_001278116.2(L1CAM):c.1839G>A (p.Gly613=)
NM_001278116.2(L1CAM):c.1842G>A (p.Pro614=) rs2064729357
NM_001278116.2(L1CAM):c.1878G>A (p.Leu626=)
NM_001278116.2(L1CAM):c.1900T>C (p.Ser634Pro) rs2148495976
NM_001278116.2(L1CAM):c.1939+1G>A rs1064793801
NM_001278116.2(L1CAM):c.1939+5G>C rs879253716
NM_001278116.2(L1CAM):c.1972G>A (p.Ala658Thr) rs2064725346
NM_001278116.2(L1CAM):c.1983del (p.Lys661fs) rs1557091377
NM_001278116.2(L1CAM):c.2006C>G (p.Pro669Arg)
NM_001278116.2(L1CAM):c.2029C>T (p.Leu677Phe)
NM_001278116.2(L1CAM):c.2042C>T (p.Pro681Leu) rs1557091354
NM_001278116.2(L1CAM):c.2092G>A (p.Gly698Arg) rs886039409
NM_001278116.2(L1CAM):c.20A>G (p.Tyr7Cys)
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT rs398123361
NM_001278116.2(L1CAM):c.2205G>A (p.Trp735Ter) rs1131691594
NM_001278116.2(L1CAM):c.2209-42_2229del rs1557091079
NM_001278116.2(L1CAM):c.2209C>G (p.Pro737Ala)
NM_001278116.2(L1CAM):c.2234C>T (p.Ala745Val) rs2148495200
NM_001278116.2(L1CAM):c.2249A>C (p.Tyr750Ser) rs1064794855
NM_001278116.2(L1CAM):c.2249A>G (p.Tyr750Cys) rs1064794855
NM_001278116.2(L1CAM):c.2260T>A (p.Trp754Arg) rs2148495173
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278116.2(L1CAM):c.2279G>A (p.Arg760Gln)
NM_001278116.2(L1CAM):c.2310C>T (p.Asp770=) rs2064717101
NM_001278116.2(L1CAM):c.2311C>T (p.Pro771Ser)
NM_001278116.2(L1CAM):c.2343C>G (p.Phe781Leu) rs369046420
NM_001278116.2(L1CAM):c.2368G>C (p.Ala790Pro)
NM_001278116.2(L1CAM):c.23T>A (p.Val8Glu) rs886044768
NM_001278116.2(L1CAM):c.23del (p.Val8fs) rs398123362
NM_001278116.2(L1CAM):c.2416T>C (p.Tyr806His) rs2064716073
NM_001278116.2(L1CAM):c.2431+300_2431+311del rs781876038
NM_001278116.2(L1CAM):c.2431+322dup rs374864697
NM_001278116.2(L1CAM):c.2431+336del rs374864697
NM_001278116.2(L1CAM):c.2431+5G>A rs1557090943
NM_001278116.2(L1CAM):c.2433C>A (p.Tyr811Ter) rs782553641
NM_001278116.2(L1CAM):c.2438dup (p.Ala814fs) rs1131691666
NM_001278116.2(L1CAM):c.2452C>T (p.Leu818=) rs1603274419
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp) rs2148494375
NM_001278116.2(L1CAM):c.2539G>A (p.Gly847Arg) rs2148494337
NM_001278116.2(L1CAM):c.2544C>A (p.Tyr848Ter) rs886039410
NM_001278116.2(L1CAM):c.2547+1G>A rs886039411
NM_001278116.2(L1CAM):c.2548-37C>A
NM_001278116.2(L1CAM):c.2581_2589del (p.His861_Lys863del)
NM_001278116.2(L1CAM):c.2593C>T (p.His865Tyr)
NM_001278116.2(L1CAM):c.2593_2594del (p.His865fs) rs1603274308
NM_001278116.2(L1CAM):c.2603_2604del (p.Lys868fs) rs2148494123
NM_001278116.2(L1CAM):c.2607C>A (p.Asp869Glu)
NM_001278116.2(L1CAM):c.2648G>C (p.Ser883Thr)
NM_001278116.2(L1CAM):c.266C>A (p.Ser89Ter) rs782178366
NM_001278116.2(L1CAM):c.26G>A (p.Trp9Ter) rs1557094409
NM_001278116.2(L1CAM):c.2701C>T (p.Arg901Ter) rs2148494055
NM_001278116.2(L1CAM):c.2739C>T (p.Thr913=)
NM_001278116.2(L1CAM):c.2748A>T (p.Gly916=)
NM_001278116.2(L1CAM):c.2849G>A (p.Gly950Asp) rs886044872
NM_001278116.2(L1CAM):c.2852A>G (p.Tyr951Cys)
NM_001278116.2(L1CAM):c.2854G>A (p.Val952Met)
NM_001278116.2(L1CAM):c.2879del (p.Glu960fs) rs398123364
NM_001278116.2(L1CAM):c.2900C>T (p.Ser967Phe)
NM_001278116.2(L1CAM):c.2918_2919del (p.Pro973fs) rs1557090314
NM_001278116.2(L1CAM):c.2974C>T (p.Gln992Ter) rs879253717
NM_001278116.2(L1CAM):c.2978T>C (p.Leu993Pro) rs2148493621
NM_001278116.2(L1CAM):c.3014T>C (p.Ile1005Thr) rs398123365
NM_001278116.2(L1CAM):c.3020G>A (p.Arg1007Gln)
NM_001278116.2(L1CAM):c.3046+5G>C
NM_001278116.2(L1CAM):c.3071C>G (p.Ser1024Ter) rs1557090143
NM_001278116.2(L1CAM):c.3081G>T (p.Ala1027=) rs139393266
NM_001278116.2(L1CAM):c.3095G>A (p.Ser1032Asn) rs2148493445
NM_001278116.2(L1CAM):c.3140T>C (p.Phe1047Ser) rs2148493416
NM_001278116.2(L1CAM):c.3182C>A (p.Ala1061Asp)
NM_001278116.2(L1CAM):c.31CTC[2] (p.Leu13del) rs2064809071
NM_001278116.2(L1CAM):c.3201T>G (p.Tyr1067Ter) rs1569544629
NM_001278116.2(L1CAM):c.3226A>T (p.Thr1076Ser)
NM_001278116.2(L1CAM):c.3323-24dup rs782818719
NM_001278116.2(L1CAM):c.3323-84C>T rs2071127
NM_001278116.2(L1CAM):c.3341C>T (p.Pro1114Leu)
NM_001278116.2(L1CAM):c.3352G>C (p.Ala1118Pro)
NM_001278116.2(L1CAM):c.3406G>A (p.Val1136Ile)
NM_001278116.2(L1CAM):c.3427A>G (p.Ile1143Val)
NM_001278116.2(L1CAM):c.3457+116G>T rs782631703
NM_001278116.2(L1CAM):c.3457+18C>T rs76726076
NM_001278116.2(L1CAM):c.3458-139G>A rs56328570
NM_001278116.2(L1CAM):c.3473A>G (p.Asp1158Gly)
NM_001278116.2(L1CAM):c.3476C>T (p.Thr1159Ile) rs2064682571
NM_001278116.2(L1CAM):c.3500C>T (p.Pro1167Leu) rs2064682269
NM_001278116.2(L1CAM):c.3531-12G>A rs111247323
NM_001278116.2(L1CAM):c.3550G>A (p.Glu1184Lys) rs1557089371
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.3583C>G (p.Leu1195Val)
NM_001278116.2(L1CAM):c.3587A>G (p.Asn1196Ser) rs2148492028
NM_001278116.2(L1CAM):c.3592G>C (p.Asp1198His) rs1557089353
NM_001278116.2(L1CAM):c.3613G>A (p.Asp1205Asn)
NM_001278116.2(L1CAM):c.3671C>T (p.Ser1224Leu) rs2148491960
NM_001278116.2(L1CAM):c.3774G>C (p.Ter1258Tyr) rs782235888
NM_001278116.2(L1CAM):c.391A>G (p.Met131Val)
NM_001278116.2(L1CAM):c.400+285G>A rs184593210
NM_001278116.2(L1CAM):c.400+291C>G rs1329722584
NM_001278116.2(L1CAM):c.400+5G>A rs1569544908
NM_001278116.2(L1CAM):c.401-12T>C rs1603276254
NM_001278116.2(L1CAM):c.401-89A>G rs12841858
NM_001278116.2(L1CAM):c.401-90T>G rs12834944
NM_001278116.2(L1CAM):c.407C>T (p.Pro136Leu)
NM_001278116.2(L1CAM):c.452G>A (p.Gly151Glu) rs1064796291
NM_001278116.2(L1CAM):c.457T>A (p.Ser153Thr) rs2148499026
NM_001278116.2(L1CAM):c.48del (p.Cys17fs) rs1603277417
NM_001278116.2(L1CAM):c.502del (p.Arg168fs) rs1557092994
NM_001278116.2(L1CAM):c.523+12C>T rs886039406
NM_001278116.2(L1CAM):c.523+45G>A rs192481307
NM_001278116.2(L1CAM):c.595C>T (p.Leu199Phe)
NM_001278116.2(L1CAM):c.603C>G (p.Ser201=) rs782223025
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001278116.2(L1CAM):c.631G>A (p.Ala211Thr) rs202000092
NM_001278116.2(L1CAM):c.641C>T (p.Pro214Leu)
NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr) rs1557092782
NM_001278116.2(L1CAM):c.707T>C (p.Ile236Thr)
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.76+194C>A rs112639341
NM_001278116.2(L1CAM):c.76+4A>T rs2148502509
NM_001278116.2(L1CAM):c.769G>A (p.Gly257Arg) rs2148498281
NM_001278116.2(L1CAM):c.785T>G (p.Leu262Arg) rs1557092743
NM_001278116.2(L1CAM):c.806+1G>C rs1064793920
NM_001278116.2(L1CAM):c.806+5G>C
NM_001278116.2(L1CAM):c.807-6G>A rs886039405
NM_001278116.2(L1CAM):c.826T>A (p.Trp276Arg) rs1131691900
NM_001278116.2(L1CAM):c.895C>A (p.Leu299Met)
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_001278116.2(L1CAM):c.985G>A (p.Val329Met) rs2148497835
NM_001278116.2(L1CAM):c.992-2A>G rs878853099
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg) rs1064793162

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