ClinVar Miner

List of variants in gene L1CAM reported as benign for Spastic paraplegia

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Gene type:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.2209-6C>T rs7885771 0.05725
NM_001278116.2(L1CAM):c.1268-10C>T rs112841948 0.03467
NM_001278116.2(L1CAM):c.855C>T (p.Ala285=) rs1042512 0.03189
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.1704-14C>T rs140240430 0.01472
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.28C>T (p.Pro10Ser) rs144605615 0.00970
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=) rs143382184 0.00854
NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=) rs73640833 0.00445
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) rs139393266 0.00285
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) rs142277193 0.00188
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) rs140678848 0.00180
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.3530+8G>A rs200870843 0.00095
NM_001278116.2(L1CAM):c.3672G>A (p.Ser1224=) rs146526273 0.00054
NM_001278116.2(L1CAM):c.2697C>T (p.Asn899=) rs139178593 0.00052
NM_001278116.2(L1CAM):c.3441G>A (p.Lys1147=) rs199661695 0.00037
NM_001278116.2(L1CAM):c.806+18G>A rs200497143 0.00037
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) rs142603269 0.00032
NM_001278116.2(L1CAM):c.2583C>G (p.His861Gln) rs185418119 0.00031
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.2749+18C>T rs201341092 0.00019
NM_001278116.2(L1CAM):c.1547-18C>T rs200876938 0.00018
NM_001278116.2(L1CAM):c.2274G>A (p.Gly758=) rs2071643 0.00017
NM_001278116.2(L1CAM):c.3327C>T (p.Arg1109=) rs150419364 0.00017
NM_001278116.2(L1CAM):c.1329T>G (p.Thr443=) rs782415528 0.00016
NM_001278116.2(L1CAM):c.294G>A (p.Thr98=) rs4898371 0.00014
NM_001278116.2(L1CAM):c.2853C>T (p.Tyr951=) rs148187017 0.00013
NM_001278116.2(L1CAM):c.3322+7C>G rs200954919 0.00013
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu) rs200815347 0.00012
NM_001278116.2(L1CAM):c.524-20G>A rs188071191 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.2232C>T (p.Asn744=) rs201081454 0.00009
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu) rs149737236 0.00009
NM_001278116.2(L1CAM):c.3735G>A (p.Gly1245=) rs200206375 0.00009
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg) rs199888009 0.00008
NM_001278116.2(L1CAM):c.3542+13C>T rs782760565 0.00008
NM_001278116.2(L1CAM):c.3642C>T (p.Ser1214=) rs782341083 0.00008
NM_001278116.2(L1CAM):c.3710C>T (p.Ala1237Val) rs370546591 0.00008
NM_001278116.2(L1CAM):c.523+13G>A rs201766114 0.00008
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_001278116.2(L1CAM):c.1476C>T (p.Thr492=) rs150805225 0.00007
NM_001278116.2(L1CAM):c.1703+10G>C rs781848372 0.00007
NM_001278116.2(L1CAM):c.618C>A (p.Asp206Glu) rs201474883 0.00007
NM_001278116.2(L1CAM):c.1703+14C>T rs201072258 0.00006
NM_001278116.2(L1CAM):c.2091C>T (p.Pro697=) rs147917724 0.00006
NM_001278116.2(L1CAM):c.2552C>T (p.Thr851Met) rs782419777 0.00006
NM_001278116.2(L1CAM):c.2721C>T (p.Ser907=) rs200799618 0.00006
NM_001278116.2(L1CAM):c.99G>C (p.Glu33Asp) rs201990980 0.00006
NM_001278116.2(L1CAM):c.2065G>A (p.Val689Ile) rs782746537 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.798C>T (p.Ala266=) rs111597352 0.00005
NM_001278116.2(L1CAM):c.1220G>A (p.Arg407His) rs139197516 0.00004
NM_001278116.2(L1CAM):c.1386C>T (p.Asp462=) rs200209432 0.00004
NM_001278116.2(L1CAM):c.3099C>T (p.Val1033=) rs782495914 0.00004
NM_001278116.2(L1CAM):c.3178G>A (p.Gly1060Arg) rs202064643 0.00004
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His) rs781908326 0.00004
NM_001278116.2(L1CAM):c.3542+14G>A rs782488294 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.1673G>A (p.Arg558Gln) rs782557004 0.00003
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn) rs148516831 0.00003
NM_001278116.2(L1CAM):c.2715C>T (p.Pro905=) rs782031914 0.00003
NM_001278116.2(L1CAM):c.1249G>A (p.Ala417Thr) rs782331927 0.00002
NM_001278116.2(L1CAM):c.1269G>A (p.Gln423=) rs41311706 0.00002
NM_001278116.2(L1CAM):c.1379+12G>A rs376186883 0.00002
NM_001278116.2(L1CAM):c.1379+3G>A rs782455321 0.00002
NM_001278116.2(L1CAM):c.1379+8T>C rs782035694 0.00002
NM_001278116.2(L1CAM):c.1387G>A (p.Glu463Lys) rs202175564 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.198-9C>T rs782753470 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.3322+19G>A rs375076231 0.00002
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His) rs782420127 0.00002
NM_001278116.2(L1CAM):c.3549C>T (p.Asn1183=) rs200916591 0.00002
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=) rs782223025 0.00002
NM_001278116.2(L1CAM):c.92T>C (p.Val31Ala) rs782476478 0.00002
NM_001278116.2(L1CAM):c.943G>A (p.Glu315Lys) rs782423426 0.00002
NM_001278116.2(L1CAM):c.2105C>T (p.Pro702Leu) rs782568205 0.00001
NM_001278116.2(L1CAM):c.2412C>T (p.Ile804=) rs201540601 0.00001
NM_001278116.2(L1CAM):c.2500C>T (p.Arg834Trp) rs782716607 0.00001
NM_001278116.2(L1CAM):c.2536C>T (p.Arg846Cys) rs1373663966 0.00001
NM_001278116.2(L1CAM):c.266C>T (p.Ser89Leu) rs782178366 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.3163G>A (p.Gly1055Arg) rs1484399991 0.00001
NM_001278116.2(L1CAM):c.3169G>A (p.Glu1057Lys) rs782180684 0.00001
NM_001278116.2(L1CAM):c.3322+12G>A rs202237037 0.00001
NM_001278116.2(L1CAM):c.33C>T (p.Leu11=) rs199910719 0.00001
NM_001278116.2(L1CAM):c.3412C>G (p.Leu1138Val) rs781860875 0.00001
NM_001278116.2(L1CAM):c.3489T>C (p.Ser1163=) rs782791362 0.00001
NM_001278116.2(L1CAM):c.3690T>C (p.Ser1230=) rs200610909 0.00001
NM_001278116.2(L1CAM):c.570C>T (p.Asn190=) rs202098484 0.00001
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=) rs375862497 0.00001
NM_001278116.2(L1CAM):c.695-10C>T rs782231167 0.00001
NM_001278116.2(L1CAM):c.774G>C (p.Gln258His) rs930427854 0.00001
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His) rs200402620 0.00001
NM_001278116.2(L1CAM):c.950C>T (p.Ser317Leu) rs781935859 0.00001
NM_001278116.2(L1CAM):c.1020G>A (p.Gln340=)
NM_001278116.2(L1CAM):c.1052G>A (p.Arg351His)
NM_001278116.2(L1CAM):c.1083A>T (p.Gln361His)
NM_001278116.2(L1CAM):c.108C>T (p.Val36=)
NM_001278116.2(L1CAM):c.1092C>T (p.Val364=)
NM_001278116.2(L1CAM):c.1157G>A (p.Arg386His)
NM_001278116.2(L1CAM):c.1230C>T (p.His410=)
NM_001278116.2(L1CAM):c.1248T>C (p.Asn416=)
NM_001278116.2(L1CAM):c.1260C>T (p.Tyr420=)
NM_001278116.2(L1CAM):c.1297A>C (p.Asn433His)
NM_001278116.2(L1CAM):c.1305G>A (p.Thr435=)
NM_001278116.2(L1CAM):c.131G>A (p.Arg44His)
NM_001278116.2(L1CAM):c.1323C>A (p.Gly441=)
NM_001278116.2(L1CAM):c.1341G>A (p.Leu447=)
NM_001278116.2(L1CAM):c.1345A>G (p.Lys449Glu)
NM_001278116.2(L1CAM):c.1380-12T>C
NM_001278116.2(L1CAM):c.1380-17C>T
NM_001278116.2(L1CAM):c.1387G>C (p.Glu463Gln)
NM_001278116.2(L1CAM):c.139G>T (p.Val47Phe)
NM_001278116.2(L1CAM):c.1465G>A (p.Ala489Thr)
NM_001278116.2(L1CAM):c.1467C>A (p.Ala489=)
NM_001278116.2(L1CAM):c.147C>T (p.Pro49=)
NM_001278116.2(L1CAM):c.1480C>T (p.Arg494Cys)
NM_001278116.2(L1CAM):c.1546+11C>T
NM_001278116.2(L1CAM):c.1574G>A (p.Arg525His)
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=) rs201131192
NM_001278116.2(L1CAM):c.1613C>T (p.Thr538Met)
NM_001278116.2(L1CAM):c.1628T>C (p.Phe543Ser)
NM_001278116.2(L1CAM):c.1669G>A (p.Gly557Ser)
NM_001278116.2(L1CAM):c.1678C>A (p.Leu560Ile)
NM_001278116.2(L1CAM):c.1692G>A (p.Gly564=)
NM_001278116.2(L1CAM):c.1704-18_1704-15del rs782806330
NM_001278116.2(L1CAM):c.1704-20C>T
NM_001278116.2(L1CAM):c.1707C>T (p.Tyr569=)
NM_001278116.2(L1CAM):c.1721G>A (p.Gly574Glu)
NM_001278116.2(L1CAM):c.1724G>A (p.Arg575His)
NM_001278116.2(L1CAM):c.1752C>T (p.Ser584=)
NM_001278116.2(L1CAM):c.1773C>T (p.Cys591=)
NM_001278116.2(L1CAM):c.1785C>T (p.Thr595=)
NM_001278116.2(L1CAM):c.1796T>C (p.Val599Ala)
NM_001278116.2(L1CAM):c.1829-20C>T
NM_001278116.2(L1CAM):c.1849C>T (p.Arg617Trp)
NM_001278116.2(L1CAM):c.1857G>A (p.Val619=)
NM_001278116.2(L1CAM):c.1893G>T (p.Val631=)
NM_001278116.2(L1CAM):c.1896C>T (p.Arg632=)
NM_001278116.2(L1CAM):c.1897G>A (p.Val633Met)
NM_001278116.2(L1CAM):c.1901C>T (p.Ser634Phe)
NM_001278116.2(L1CAM):c.1925A>G (p.Asn642Ser)
NM_001278116.2(L1CAM):c.1929C>A (p.Ala643=)
NM_001278116.2(L1CAM):c.1940-17G>A
NM_001278116.2(L1CAM):c.1979A>C (p.Glu660Ala)
NM_001278116.2(L1CAM):c.2037G>C (p.Leu679=)
NM_001278116.2(L1CAM):c.2040G>A (p.Ser680=)
NM_001278116.2(L1CAM):c.2107G>T (p.Val703Phe)
NM_001278116.2(L1CAM):c.2109C>T (p.Val703=)
NM_001278116.2(L1CAM):c.2123T>A (p.Val708Asp)
NM_001278116.2(L1CAM):c.2138-14A>G
NM_001278116.2(L1CAM):c.2202G>A (p.Thr734=)
NM_001278116.2(L1CAM):c.2215C>T (p.Arg739Trp)
NM_001278116.2(L1CAM):c.2250C>T (p.Tyr750=)
NM_001278116.2(L1CAM):c.2317C>T (p.Leu773=)
NM_001278116.2(L1CAM):c.2334G>A (p.Thr778=)
NM_001278116.2(L1CAM):c.2343C>T (p.Phe781=)
NM_001278116.2(L1CAM):c.2344G>A (p.Val782Met)
NM_001278116.2(L1CAM):c.2459G>A (p.Gly820Asp) rs2148494420
NM_001278116.2(L1CAM):c.2505G>A (p.Pro835=)
NM_001278116.2(L1CAM):c.2538C>T (p.Arg846=)
NM_001278116.2(L1CAM):c.2548-11C>T
NM_001278116.2(L1CAM):c.2553G>A (p.Thr851=) rs373921972
NM_001278116.2(L1CAM):c.2593C>T (p.His865Tyr)
NM_001278116.2(L1CAM):c.2607C>A (p.Asp869Glu)
NM_001278116.2(L1CAM):c.2622C>T (p.Pro874=)
NM_001278116.2(L1CAM):c.2656C>T (p.Arg886Trp)
NM_001278116.2(L1CAM):c.2709G>A (p.Ser903=)
NM_001278116.2(L1CAM):c.2716G>A (p.Ala906Thr)
NM_001278116.2(L1CAM):c.2745G>A (p.Glu915=)
NM_001278116.2(L1CAM):c.2781G>A (p.Glu927=)
NM_001278116.2(L1CAM):c.2810G>A (p.Arg937His)
NM_001278116.2(L1CAM):c.2838C>T (p.Gly946=)
NM_001278116.2(L1CAM):c.2873-17C>T
NM_001278116.2(L1CAM):c.2876A>G (p.Asp959Gly)
NM_001278116.2(L1CAM):c.2919C>T (p.Pro973=)
NM_001278116.2(L1CAM):c.2929A>G (p.Thr977Ala)
NM_001278116.2(L1CAM):c.293C>T (p.Thr98Met)
NM_001278116.2(L1CAM):c.2968C>T (p.Arg990Cys)
NM_001278116.2(L1CAM):c.2997G>A (p.Glu999=)
NM_001278116.2(L1CAM):c.3046+12G>A
NM_001278116.2(L1CAM):c.3047-7C>A
NM_001278116.2(L1CAM):c.3081G>T (p.Ala1027=) rs139393266
NM_001278116.2(L1CAM):c.3166+18C>A
NM_001278116.2(L1CAM):c.3258C>T (p.Tyr1086=)
NM_001278116.2(L1CAM):c.3281G>C (p.Arg1094Thr)
NM_001278116.2(L1CAM):c.3302C>T (p.Ala1101Val)
NM_001278116.2(L1CAM):c.3322+10C>T
NM_001278116.2(L1CAM):c.3322+18C>T
NM_001278116.2(L1CAM):c.3322+8G>A
NM_001278116.2(L1CAM):c.3323-24dup rs782818719
NM_001278116.2(L1CAM):c.3352G>A (p.Ala1118Thr)
NM_001278116.2(L1CAM):c.3372C>T (p.Ile1124=)
NM_001278116.2(L1CAM):c.3388A>G (p.Ile1130Val)
NM_001278116.2(L1CAM):c.3406G>A (p.Val1136Ile)
NM_001278116.2(L1CAM):c.3429C>A (p.Ile1143=)
NM_001278116.2(L1CAM):c.3433C>T (p.Arg1145Cys)
NM_001278116.2(L1CAM):c.3444C>T (p.Gly1148=)
NM_001278116.2(L1CAM):c.3457+18C>G
NM_001278116.2(L1CAM):c.3457+18C>T rs76726076
NM_001278116.2(L1CAM):c.351C>T (p.Ser117=)
NM_001278116.2(L1CAM):c.3530+15G>A
NM_001278116.2(L1CAM):c.3530+15G>C
NM_001278116.2(L1CAM):c.3530+5G>A
NM_001278116.2(L1CAM):c.3531-14C>T
NM_001278116.2(L1CAM):c.3543-15C>T
NM_001278116.2(L1CAM):c.3588C>T (p.Asn1196=)
NM_001278116.2(L1CAM):c.3609C>T (p.Gly1203=)
NM_001278116.2(L1CAM):c.3615C>T (p.Asp1205=)
NM_001278116.2(L1CAM):c.3628G>A (p.Asp1210Asn) rs781964622
NM_001278116.2(L1CAM):c.3660C>T (p.Asn1220=)
NM_001278116.2(L1CAM):c.366C>T (p.Thr122=)
NM_001278116.2(L1CAM):c.3705G>A (p.Lys1235=)
NM_001278116.2(L1CAM):c.3739A>G (p.Thr1247Ala)
NM_001278116.2(L1CAM):c.3747C>A (p.Pro1249=)
NM_001278116.2(L1CAM):c.3760G>A (p.Val1254Met)
NM_001278116.2(L1CAM):c.3763G>A (p.Ala1255Thr)
NM_001278116.2(L1CAM):c.3764C>T (p.Ala1255Val)
NM_001278116.2(L1CAM):c.3768A>G (p.Leu1256=)
NM_001278116.2(L1CAM):c.523+10G>A
NM_001278116.2(L1CAM):c.523+11G>A
NM_001278116.2(L1CAM):c.523+17G>A
NM_001278116.2(L1CAM):c.523+9C>T
NM_001278116.2(L1CAM):c.524-15C>G
NM_001278116.2(L1CAM):c.546C>T (p.Asp182=)
NM_001278116.2(L1CAM):c.547G>A (p.Glu183Lys)
NM_001278116.2(L1CAM):c.557C>T (p.Thr186Met)
NM_001278116.2(L1CAM):c.703A>G (p.Met235Val)
NM_001278116.2(L1CAM):c.722G>A (p.Arg241His)
NM_001278116.2(L1CAM):c.729C>T (p.Leu243=)
NM_001278116.2(L1CAM):c.756G>C (p.Leu252=)
NM_001278116.2(L1CAM):c.771G>T (p.Gly257=)
NM_001278116.2(L1CAM):c.795C>T (p.Ile265=)
NM_001278116.2(L1CAM):c.806+14C>T
NM_001278116.2(L1CAM):c.813G>A (p.Thr271=)
NM_001278116.2(L1CAM):c.833G>A (p.Arg278His)
NM_001278116.2(L1CAM):c.835C>G (p.Pro279Ala)
NM_001278116.2(L1CAM):c.839G>C (p.Ser280Thr)
NM_001278116.2(L1CAM):c.845C>A (p.Pro282His)
NM_001278116.2(L1CAM):c.856G>A (p.Asp286Asn)
NM_001278116.2(L1CAM):c.858C>T (p.Asp286=)
NM_001278116.2(L1CAM):c.861T>C (p.Arg287=)
NM_001278116.2(L1CAM):c.962C>T (p.Ala321Val)
NM_001278116.2(L1CAM):c.971C>T (p.Ala324Val)
NM_001278116.2(L1CAM):c.972G>A (p.Ala324=)
NM_001278116.2(L1CAM):c.981C>T (p.Val327=)
NM_001278116.2(L1CAM):c.992-5C>T

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