ClinVar Miner

List of variants in gene L1CAM reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 301
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.153859456A>G rs868935535 0.00267
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_001278116.2(L1CAM):c.630C>T (p.His210=) rs28933683 0.00031
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=) rs142563956 0.00028
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=) rs145823218 0.00021
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) rs149309725 0.00017
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.2232C>T (p.Asn744=) rs201081454 0.00009
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu) rs149737236 0.00009
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg) rs199888009 0.00008
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_001278116.2(L1CAM):c.2106G>A (p.Pro702=) rs200561489 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.2552C>T (p.Thr851Met) rs782419777 0.00006
NM_001278116.2(L1CAM):c.992-3C>T rs201734187 0.00006
NM_001278116.2(L1CAM):c.2872+9G>A rs398123363 0.00005
NM_001278116.2(L1CAM):c.400+9C>T rs201057718 0.00005
NM_001278116.2(L1CAM):c.436G>A (p.Val146Met) rs199796566 0.00005
NM_001278116.2(L1CAM):c.1220G>A (p.Arg407His) rs139197516 0.00004
NM_001278116.2(L1CAM):c.3016G>A (p.Val1006Ile) rs201128366 0.00004
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His) rs781908326 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.2308G>A (p.Asp770Asn) rs148516831 0.00003
NM_001278116.2(L1CAM):c.3322+11G>A rs1372534909 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.1148G>A (p.Arg383Gln) rs782254209 0.00002
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.2869C>A (p.Pro957Thr) rs1307427270 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.401-7C>G rs1424993007 0.00002
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=) rs782223025 0.00002
NM_001278116.2(L1CAM):c.1147C>T (p.Arg383Trp) rs782361186 0.00001
NM_001278116.2(L1CAM):c.1180G>A (p.Val394Met) rs782477425 0.00001
NM_001278116.2(L1CAM):c.1225C>T (p.Arg409Trp) rs782132624 0.00001
NM_001278116.2(L1CAM):c.1304C>T (p.Thr435Met) rs371999853 0.00001
NM_001278116.2(L1CAM):c.1358C>T (p.Ala453Val) rs1557092050 0.00001
NM_001278116.2(L1CAM):c.1418G>A (p.Arg473His) rs782516225 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.2179G>A (p.Glu727Lys) rs1386982536 0.00001
NM_001278116.2(L1CAM):c.219T>C (p.Gly73=) rs1443862182 0.00001
NM_001278116.2(L1CAM):c.255C>T (p.Thr85=) rs201886318 0.00001
NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg) rs782097679 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.2911C>T (p.Arg971Trp) rs1057518490 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.3163G>A (p.Gly1055Arg) rs1484399991 0.00001
NM_001278116.2(L1CAM):c.3169G>A (p.Glu1057Lys) rs782180684 0.00001
NM_001278116.2(L1CAM):c.3181G>T (p.Ala1061Ser) rs1232974377 0.00001
NM_001278116.2(L1CAM):c.3412C>G (p.Leu1138Val) rs781860875 0.00001
NM_001278116.2(L1CAM):c.3449A>G (p.Lys1150Arg) rs1391080419 0.00001
NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His) rs1369743518 0.00001
NM_001278116.2(L1CAM):c.3770A>G (p.Glu1257Gly) rs1557089225 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.1021A>C (p.Ser341Arg) rs398123359
NM_001278116.2(L1CAM):c.1040G>A (p.Gly347Glu) rs2064751491
NM_001278116.2(L1CAM):c.1052G>A (p.Arg351His)
NM_001278116.2(L1CAM):c.1057G>A (p.Asp353Asn)
NM_001278116.2(L1CAM):c.1064A>G (p.Gln355Arg)
NM_001278116.2(L1CAM):c.1066G>T (p.Val356Phe)
NM_001278116.2(L1CAM):c.1100G>A (p.Arg367Lys) rs2064751060
NM_001278116.2(L1CAM):c.1118T>C (p.Val373Ala)
NM_001278116.2(L1CAM):c.1123+3G>A
NM_001278116.2(L1CAM):c.1123+5G>A rs1557092385
NM_001278116.2(L1CAM):c.1143G>C (p.Lys381Asn) rs1185735801
NM_001278116.2(L1CAM):c.1153C>G (p.Gln385Glu)
NM_001278116.2(L1CAM):c.1156C>T (p.Arg386Cys) rs1557092299
NM_001278116.2(L1CAM):c.1187C>T (p.Pro396Leu)
NM_001278116.2(L1CAM):c.1205C>G (p.Thr402Ser) rs1222808372
NM_001278116.2(L1CAM):c.1224C>G (p.Asn408Lys) rs994675918
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.1268A>G (p.Gln423Arg)
NM_001278116.2(L1CAM):c.1292C>A (p.Ala431Glu) rs782779421
NM_001278116.2(L1CAM):c.1294G>A (p.Asp432Asn)
NM_001278116.2(L1CAM):c.130C>T (p.Arg44Cys) rs370782270
NM_001278116.2(L1CAM):c.1310T>C (p.Met437Thr)
NM_001278116.2(L1CAM):c.1316T>C (p.Val439Ala) rs797044634
NM_001278116.2(L1CAM):c.132_133delinsAA (p.Leu45Met)
NM_001278116.2(L1CAM):c.1345A>G (p.Lys449Glu)
NM_001278116.2(L1CAM):c.1386C>A (p.Asp462Glu)
NM_001278116.2(L1CAM):c.1399A>G (p.Thr467Ala)
NM_001278116.2(L1CAM):c.139G>T (p.Val47Phe)
NM_001278116.2(L1CAM):c.1411G>A (p.Asp471Asn) rs1603275442
NM_001278116.2(L1CAM):c.1414G>A (p.Glu472Lys)
NM_001278116.2(L1CAM):c.1430A>C (p.Tyr477Ser)
NM_001278116.2(L1CAM):c.1445T>C (p.Leu482Pro) rs1064794246
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.1533C>A (p.Asn511Lys)
NM_001278116.2(L1CAM):c.1546G>A (p.Asp516Asn) rs782367931
NM_001278116.2(L1CAM):c.1552A>G (p.Thr518Ala)
NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser) rs1569544754
NM_001278116.2(L1CAM):c.1613C>T (p.Thr538Met)
NM_001278116.2(L1CAM):c.1633C>T (p.Pro545Ser) rs782513182
NM_001278116.2(L1CAM):c.1641G>C (p.Leu547Phe)
NM_001278116.2(L1CAM):c.1678C>T (p.Leu560Phe) rs1414810082
NM_001278116.2(L1CAM):c.1691_1703+3dup
NM_001278116.2(L1CAM):c.16C>T (p.Arg6Trp)
NM_001278116.2(L1CAM):c.1704G>A (p.Lys568=) rs1557091675
NM_001278116.2(L1CAM):c.170G>A (p.Cys57Tyr) rs1057517755
NM_001278116.2(L1CAM):c.1751G>A (p.Ser584Asn)
NM_001278116.2(L1CAM):c.176C>T (p.Ala59Val) rs2148500384
NM_001278116.2(L1CAM):c.1786G>C (p.Glu596Gln) rs137940405
NM_001278116.2(L1CAM):c.179G>T (p.Ser60Ile)
NM_001278116.2(L1CAM):c.1806T>G (p.Ser602Arg)
NM_001278116.2(L1CAM):c.1811_1816dup (p.Gln605_Leu606insProGln)
NM_001278116.2(L1CAM):c.1855G>T (p.Val619Leu)
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn)
NM_001278116.2(L1CAM):c.1900T>C (p.Ser634Pro) rs2148495976
NM_001278116.2(L1CAM):c.1909C>T (p.Pro637Ser)
NM_001278116.2(L1CAM):c.1913C>A (p.Ala638Glu) rs2148495969
NM_001278116.2(L1CAM):c.1939+5G>A rs879253716
NM_001278116.2(L1CAM):c.1972G>A (p.Ala658Thr) rs2064725346
NM_001278116.2(L1CAM):c.198-8G>A rs201664558
NM_001278116.2(L1CAM):c.198-9C>A rs782753470
NM_001278116.2(L1CAM):c.2006C>G (p.Pro669Arg)
NM_001278116.2(L1CAM):c.2012A>G (p.Asn671Ser)
NM_001278116.2(L1CAM):c.2018C>T (p.Thr673Ile)
NM_001278116.2(L1CAM):c.2029C>T (p.Leu677Phe)
NM_001278116.2(L1CAM):c.203G>T (p.Arg68Leu) rs2064778846
NM_001278116.2(L1CAM):c.2042C>T (p.Pro681Leu) rs1557091354
NM_001278116.2(L1CAM):c.2078A>T (p.Asn693Ile)
NM_001278116.2(L1CAM):c.2089C>G (p.Pro697Ala)
NM_001278116.2(L1CAM):c.2099C>A (p.Pro700His)
NM_001278116.2(L1CAM):c.20A>G (p.Tyr7Cys)
NM_001278116.2(L1CAM):c.2117C>T (p.Thr706Ile)
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT rs398123361
NM_001278116.2(L1CAM):c.2138C>G (p.Ala713Gly)
NM_001278116.2(L1CAM):c.2152C>G (p.Pro718Ala)
NM_001278116.2(L1CAM):c.2195T>A (p.Val732Asp) rs1569544718
NM_001278116.2(L1CAM):c.2209-9C>T rs201704250
NM_001278116.2(L1CAM):c.2209C>G (p.Pro737Ala)
NM_001278116.2(L1CAM):c.2234C>T (p.Ala745Val) rs2148495200
NM_001278116.2(L1CAM):c.2236C>T (p.Pro746Ser)
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.2258_2263dup (p.Gln753_Trp754dup) rs2064718045
NM_001278116.2(L1CAM):c.2260T>A (p.Trp754Arg) rs2148495173
NM_001278116.2(L1CAM):c.2260T>C (p.Trp754Arg)
NM_001278116.2(L1CAM):c.2279G>A (p.Arg760Gln)
NM_001278116.2(L1CAM):c.2281G>A (p.Gly761Arg)
NM_001278116.2(L1CAM):c.2291A>G (p.Gln764Arg)
NM_001278116.2(L1CAM):c.22G>C (p.Val8Leu)
NM_001278116.2(L1CAM):c.2300T>C (p.Ile767Thr) rs1569544704
NM_001278116.2(L1CAM):c.2311C>T (p.Pro771Ser)
NM_001278116.2(L1CAM):c.2329A>C (p.Asn777His)
NM_001278116.2(L1CAM):c.2343C>G (p.Phe781Leu) rs369046420
NM_001278116.2(L1CAM):c.2368G>C (p.Ala790Pro)
NM_001278116.2(L1CAM):c.2381A>G (p.Gln794Arg)
NM_001278116.2(L1CAM):c.2389G>A (p.Gly797Arg)
NM_001278116.2(L1CAM):c.23T>A (p.Val8Glu) rs886044768
NM_001278116.2(L1CAM):c.2402A>G (p.Gln801Arg)
NM_001278116.2(L1CAM):c.2413G>C (p.Gly805Arg) rs2148495013
NM_001278116.2(L1CAM):c.2416T>C (p.Tyr806His) rs2064716073
NM_001278116.2(L1CAM):c.2419T>C (p.Ser807Pro)
NM_001278116.2(L1CAM):c.2434C>G (p.Pro812Ala)
NM_001278116.2(L1CAM):c.247G>A (p.Gly83Ser)
NM_001278116.2(L1CAM):c.247G>C (p.Gly83Arg)
NM_001278116.2(L1CAM):c.2504C>T (p.Pro835Leu)
NM_001278116.2(L1CAM):c.250G>T (p.Val84Leu)
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp) rs2148494375
NM_001278116.2(L1CAM):c.2537G>A (p.Arg846His) rs149737236
NM_001278116.2(L1CAM):c.2539G>A (p.Gly847Arg) rs2148494337
NM_001278116.2(L1CAM):c.2541A>G (p.Gly847=) rs2148494333
NM_001278116.2(L1CAM):c.2562G>T (p.Arg854Ser) rs1032992615
NM_001278116.2(L1CAM):c.2572C>A (p.Gln858Lys)
NM_001278116.2(L1CAM):c.2581_2589del (p.His861_Lys863del)
NM_001278116.2(L1CAM):c.2584A>G (p.Ser862Gly) rs2148494141
NM_001278116.2(L1CAM):c.2593C>G (p.His865Asp)
NM_001278116.2(L1CAM):c.2593C>T (p.His865Tyr)
NM_001278116.2(L1CAM):c.2597T>A (p.Ile866Asn)
NM_001278116.2(L1CAM):c.2599C>T (p.His867Tyr) rs2064704352
NM_001278116.2(L1CAM):c.2607C>A (p.Asp869Glu)
NM_001278116.2(L1CAM):c.2614G>T (p.Val872Leu) rs797045675
NM_001278116.2(L1CAM):c.2623G>A (p.Ala875Thr)
NM_001278116.2(L1CAM):c.2648G>C (p.Ser883Thr)
NM_001278116.2(L1CAM):c.2674C>G (p.His892Asp) rs2148494073
NM_001278116.2(L1CAM):c.2714C>T (p.Pro905Leu)
NM_001278116.2(L1CAM):c.2720G>A (p.Ser907Asn)
NM_001278116.2(L1CAM):c.2739C>T (p.Thr913=)
NM_001278116.2(L1CAM):c.2747G>A (p.Gly916Glu)
NM_001278116.2(L1CAM):c.2748A>T (p.Gly916=)
NM_001278116.2(L1CAM):c.2750-6C>T
NM_001278116.2(L1CAM):c.2809C>T (p.Arg937Cys)
NM_001278116.2(L1CAM):c.2837G>A (p.Gly946Asp)
NM_001278116.2(L1CAM):c.2848G>A (p.Gly950Ser) rs1569544662
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.2857C>G (p.Leu953Val)
NM_001278116.2(L1CAM):c.2872+3G>A
NM_001278116.2(L1CAM):c.289A>G (p.Ile97Val)
NM_001278116.2(L1CAM):c.2900C>T (p.Ser967Phe)
NM_001278116.2(L1CAM):c.2920G>A (p.Glu974Lys)
NM_001278116.2(L1CAM):c.292A>G (p.Thr98Ala) rs2148500068
NM_001278116.2(L1CAM):c.2978T>C (p.Leu993Pro) rs2148493621
NM_001278116.2(L1CAM):c.2988C>T (p.Thr996=) rs200863731
NM_001278116.2(L1CAM):c.2996A>C (p.Glu999Ala)
NM_001278116.2(L1CAM):c.2999G>A (p.Gly1000Asp) rs2148493606
NM_001278116.2(L1CAM):c.3014T>C (p.Ile1005Thr) rs398123365
NM_001278116.2(L1CAM):c.3019C>G (p.Arg1007Gly) rs1557090232
NM_001278116.2(L1CAM):c.3020G>A (p.Arg1007Gln)
NM_001278116.2(L1CAM):c.3043T>C (p.Ser1015Pro)
NM_001278116.2(L1CAM):c.3046+5G>C
NM_001278116.2(L1CAM):c.3068T>A (p.Ile1023Asn)
NM_001278116.2(L1CAM):c.3092A>T (p.Tyr1031Phe)
NM_001278116.2(L1CAM):c.3095G>A (p.Ser1032Asn) rs2148493445
NM_001278116.2(L1CAM):c.3100G>A (p.Val1034Ile)
NM_001278116.2(L1CAM):c.3140T>C (p.Phe1047Ser) rs2148493416
NM_001278116.2(L1CAM):c.3182C>A (p.Ala1061Asp)
NM_001278116.2(L1CAM):c.3187C>T (p.Leu1063Phe) rs1569544630
NM_001278116.2(L1CAM):c.31CTC[2] (p.Leu13del) rs2064809071
NM_001278116.2(L1CAM):c.3226A>T (p.Thr1076Ser)
NM_001278116.2(L1CAM):c.3235G>A (p.Asp1079Asn)
NM_001278116.2(L1CAM):c.3257A>C (p.Tyr1086Ser) rs2148493224
NM_001278116.2(L1CAM):c.3316G>A (p.Gly1106Ser)
NM_001278116.2(L1CAM):c.3341C>T (p.Pro1114Leu)
NM_001278116.2(L1CAM):c.3352G>C (p.Ala1118Pro)
NM_001278116.2(L1CAM):c.3370A>T (p.Ile1124Phe)
NM_001278116.2(L1CAM):c.3427A>G (p.Ile1143Val)
NM_001278116.2(L1CAM):c.3456A>C (p.Ser1152=)
NM_001278116.2(L1CAM):c.3457+5C>T
NM_001278116.2(L1CAM):c.3458-5T>G rs2064682754
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.3520G>A (p.Gly1174Ser)
NM_001278116.2(L1CAM):c.3531-1G>A rs2148492410
NM_001278116.2(L1CAM):c.3550G>A (p.Glu1184Lys) rs1557089371
NM_001278116.2(L1CAM):c.3583C>G (p.Leu1195Val)
NM_001278116.2(L1CAM):c.3587A>G (p.Asn1196Ser) rs2148492028
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)
NM_001278116.2(L1CAM):c.3592G>C (p.Asp1198His) rs1557089353
NM_001278116.2(L1CAM):c.3613G>A (p.Asp1205Asn)
NM_001278116.2(L1CAM):c.3626C>A (p.Ala1209Asp)
NM_001278116.2(L1CAM):c.3630T>G (p.Asp1210Glu)
NM_001278116.2(L1CAM):c.3721A>G (p.Asn1241Asp)
NM_001278116.2(L1CAM):c.3734G>A (p.Gly1245Glu) rs2148491886
NM_001278116.2(L1CAM):c.3752A>C (p.Asn1251Thr)
NM_001278116.2(L1CAM):c.3754C>T (p.Pro1252Ser) rs2064673421
NM_001278116.2(L1CAM):c.3755C>A (p.Pro1252His) rs2148491854
NM_001278116.2(L1CAM):c.3773A>T (p.Ter1258Leu)
NM_001278116.2(L1CAM):c.3774G>T (p.Ter1258Tyr) rs782235888
NM_001278116.2(L1CAM):c.400+4C>T
NM_001278116.2(L1CAM):c.400G>A (p.Gly134Ser) rs1557093353
NM_001278116.2(L1CAM):c.407C>T (p.Pro136Leu)
NM_001278116.2(L1CAM):c.452G>A (p.Gly151Glu) rs1064796291
NM_001278116.2(L1CAM):c.452G>C (p.Gly151Ala) rs1064796291
NM_001278116.2(L1CAM):c.454G>A (p.Glu152Lys)
NM_001278116.2(L1CAM):c.457T>A (p.Ser153Thr) rs2148499026
NM_001278116.2(L1CAM):c.484C>G (p.Pro162Ala)
NM_001278116.2(L1CAM):c.487A>G (p.Ser163Gly) rs1603276226
NM_001278116.2(L1CAM):c.496C>G (p.Pro166Ala)
NM_001278116.2(L1CAM):c.574_582dup (p.Tyr194_Phe195insAsnLeuTyr) rs2148498765
NM_001278116.2(L1CAM):c.595C>T (p.Leu199Phe)
NM_001278116.2(L1CAM):c.641C>T (p.Pro214Leu)
NM_001278116.2(L1CAM):c.644G>A (p.Gly215Asp) rs1175408854
NM_001278116.2(L1CAM):c.64A>G (p.Ile22Val)
NM_001278116.2(L1CAM):c.66C>G (p.Ile22Met) rs1557094388
NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr) rs1557092782
NM_001278116.2(L1CAM):c.707T>C (p.Ile236Thr)
NM_001278116.2(L1CAM):c.718_775delinsACATTGACAG (p.Pro240_Pro259delinsThrLeuThrAla) rs2148498265
NM_001278116.2(L1CAM):c.751C>G (p.His251Asp)
NM_001278116.2(L1CAM):c.76+4A>T rs2148502509
NM_001278116.2(L1CAM):c.769G>A (p.Gly257Arg) rs2148498281
NM_001278116.2(L1CAM):c.806+6_806+54delinsAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCGAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGA
NM_001278116.2(L1CAM):c.806T>C (p.Phe269Ser)
NM_001278116.2(L1CAM):c.807-4G>T
NM_001278116.2(L1CAM):c.809C>T (p.Pro270Leu) rs2148498057
NM_001278116.2(L1CAM):c.827G>T (p.Trp276Leu)
NM_001278116.2(L1CAM):c.845C>A (p.Pro282His)
NM_001278116.2(L1CAM):c.863T>C (p.Val288Ala)
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu)
NM_001278116.2(L1CAM):c.895C>A (p.Leu299Met)
NM_001278116.2(L1CAM):c.898C>G (p.Leu300Val) rs2148497936
NM_001278116.2(L1CAM):c.919_920delinsTT (p.Asp307Phe)
NM_001278116.2(L1CAM):c.932G>A (p.Arg311His)
NM_001278116.2(L1CAM):c.958A>G (p.Ser320Gly)
NM_001278116.2(L1CAM):c.985G>A (p.Val329Met) rs2148497835
NM_001278116.2(L1CAM):c.991+4T>A
NM_001278116.2(L1CAM):c.991+6G>A

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