ClinVar Miner

List of variants in gene RELN studied for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.4408G>A (p.Val1470Ile) rs143213152 0.00233
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) rs362800 0.00098
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726 0.00091
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn) rs143948239 0.00052
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597 0.00043
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser) rs200409290 0.00038
NM_005045.4(RELN):c.877G>A (p.Asp293Asn) rs200289289 0.00032
NM_005045.4(RELN):c.2944A>C (p.Ile982Leu) rs143972828 0.00031
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln) rs199553777 0.00031
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val) rs147026512 0.00031
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe) rs144653976 0.00029
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met) rs114190729 0.00025
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile) rs144978163 0.00021
NM_005045.4(RELN):c.6278A>C (p.His2093Pro) rs149152189 0.00019
NM_005045.4(RELN):c.2125A>G (p.Met709Val) rs114577182 0.00018
NM_005045.4(RELN):c.4720G>A (p.Ala1574Thr) rs78480723 0.00015
NM_005045.4(RELN):c.1013T>G (p.Val338Gly) rs200513558 0.00014
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) rs116634494 0.00014
NM_005045.4(RELN):c.1708C>G (p.His570Asp) rs374546580 0.00013
NM_005045.4(RELN):c.5969C>T (p.Pro1990Leu) rs149473868 0.00013
NM_005045.4(RELN):c.113T>A (p.Phe38Tyr) rs149715692 0.00012
NM_005045.4(RELN):c.3667A>G (p.Lys1223Glu) rs200269227 0.00010
NM_005045.4(RELN):c.7268G>A (p.Arg2423His) rs140660860 0.00010
NM_005045.4(RELN):c.3607G>A (p.Val1203Met) rs140868852 0.00009
NM_005045.4(RELN):c.4843G>C (p.Asp1615His) rs375040526 0.00009
NM_005045.4(RELN):c.5935G>A (p.Gly1979Ser) rs139892362 0.00008
NM_005045.4(RELN):c.1669T>G (p.Phe557Val) rs757726526 0.00006
NM_005045.4(RELN):c.3191C>G (p.Ala1064Gly) rs565236668 0.00006
NM_005045.4(RELN):c.5246A>G (p.Asn1749Ser) rs755596079 0.00006
NM_005045.4(RELN):c.5345G>A (p.Arg1782His) rs747527621 0.00006
NM_005045.4(RELN):c.6031C>T (p.Arg2011Cys) rs374628146 0.00006
NM_005045.4(RELN):c.6170T>G (p.Leu2057Arg) rs138909076 0.00006
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr) rs757915171 0.00005
NM_005045.4(RELN):c.5002A>G (p.Met1668Val) rs762369288 0.00005
NM_005045.4(RELN):c.5006G>C (p.Ser1669Thr) rs373730762 0.00005
NM_005045.4(RELN):c.8077G>A (p.Gly2693Arg) rs377549748 0.00005
NM_005045.4(RELN):c.1690C>A (p.Leu564Ile) rs748901010 0.00004
NM_005045.4(RELN):c.6169C>G (p.Leu2057Val) rs764185528 0.00004
NM_005045.4(RELN):c.6401A>G (p.Glu2134Gly) rs1023433954 0.00004
NM_005045.4(RELN):c.65G>T (p.Arg22Met) rs139532757 0.00004
NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile) rs202172902 0.00004
NM_005045.4(RELN):c.1696T>A (p.Ser566Thr) rs200058688 0.00003
NM_005045.4(RELN):c.2453A>G (p.Tyr818Cys) rs771201055 0.00003
NM_005045.4(RELN):c.2566A>G (p.Ile856Val) rs371309082 0.00003
NM_005045.4(RELN):c.2734A>G (p.Met912Val) rs1485021475 0.00003
NM_005045.4(RELN):c.2765T>C (p.Ile922Thr) rs561471703 0.00003
NM_005045.4(RELN):c.3217T>G (p.Phe1073Val) rs1402561512 0.00003
NM_005045.4(RELN):c.4042G>A (p.Glu1348Lys) rs773149531 0.00003
NM_005045.4(RELN):c.4352T>C (p.Phe1451Ser) rs137965786 0.00003
NM_005045.4(RELN):c.5207C>T (p.Thr1736Ile) rs764945188 0.00003
NM_005045.4(RELN):c.6079G>A (p.Val2027Ile) rs753782715 0.00003
NM_005045.4(RELN):c.7339C>G (p.Pro2447Ala) rs371476408 0.00003
NM_005045.4(RELN):c.850G>A (p.Val284Met) rs149397714 0.00003
NM_005045.4(RELN):c.1198G>A (p.Glu400Lys) rs760337154 0.00002
NM_005045.4(RELN):c.1687G>C (p.Val563Leu) rs368090783 0.00002
NM_005045.4(RELN):c.1756G>A (p.Gly586Ser) rs1412992533 0.00002
NM_005045.4(RELN):c.1936C>T (p.Arg646Trp) rs115831287 0.00002
NM_005045.4(RELN):c.2260C>T (p.Arg754Trp) rs759711654 0.00002
NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg) rs780325204 0.00002
NM_005045.4(RELN):c.3952C>G (p.Pro1318Ala) rs140090640 0.00002
NM_005045.4(RELN):c.4649A>T (p.Asp1550Val) rs781465325 0.00002
NM_005045.4(RELN):c.4654A>G (p.Met1552Val) rs558308794 0.00002
NM_005045.4(RELN):c.4933A>T (p.Ile1645Leu) rs1217511479 0.00002
NM_005045.4(RELN):c.5005A>C (p.Ser1669Arg) rs1481028795 0.00002
NM_005045.4(RELN):c.5324G>A (p.Arg1775Gln) rs748363492 0.00002
NM_005045.4(RELN):c.6058A>G (p.Ile2020Val) rs765511963 0.00002
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr) rs371614773 0.00002
NM_005045.4(RELN):c.7369C>T (p.Arg2457Cys) rs750386872 0.00002
NM_005045.4(RELN):c.7531G>A (p.Glu2511Lys) rs367906773 0.00002
NM_005045.4(RELN):c.930C>G (p.Ile310Met) rs751695466 0.00002
NM_005045.4(RELN):c.980A>G (p.Gln327Arg) rs890609228 0.00002
NM_005045.4(RELN):c.103C>T (p.Pro35Ser) rs763567323 0.00001
NM_005045.4(RELN):c.1092C>T (p.Leu364=) rs142192165 0.00001
NM_005045.4(RELN):c.1517A>T (p.His506Leu) rs375542264 0.00001
NM_005045.4(RELN):c.1532C>T (p.Thr511Ile) rs372928932 0.00001
NM_005045.4(RELN):c.1588G>A (p.Glu530Lys) rs745368912 0.00001
NM_005045.4(RELN):c.1600C>T (p.Pro534Ser) rs115160339 0.00001
NM_005045.4(RELN):c.1789C>T (p.His597Tyr) rs779014769 0.00001
NM_005045.4(RELN):c.1796G>A (p.Arg599His) rs201371180 0.00001
NM_005045.4(RELN):c.1820A>G (p.Glu607Gly) rs1554397636 0.00001
NM_005045.4(RELN):c.1906A>G (p.Thr636Ala) rs756344611 0.00001
NM_005045.4(RELN):c.2053A>G (p.Thr685Ala) rs779358126 0.00001
NM_005045.4(RELN):c.2281T>C (p.Phe761Leu) rs374189896 0.00001
NM_005045.4(RELN):c.2313G>T (p.Gln771His) rs777581847 0.00001
NM_005045.4(RELN):c.2332A>G (p.Ser778Gly) rs765589329 0.00001
NM_005045.4(RELN):c.2350A>G (p.Thr784Ala) rs781104338 0.00001
NM_005045.4(RELN):c.2777A>G (p.Tyr926Cys) rs1831963655 0.00001
NM_005045.4(RELN):c.293T>C (p.Val98Ala) rs1471699014 0.00001
NM_005045.4(RELN):c.340A>G (p.Ile114Val) rs886061863 0.00001
NM_005045.4(RELN):c.3496C>T (p.His1166Tyr) rs1166173010 0.00001
NM_005045.4(RELN):c.3500T>C (p.Leu1167Pro) rs1448416860 0.00001
NM_005045.4(RELN):c.3700A>G (p.Thr1234Ala) rs758305250 0.00001
NM_005045.4(RELN):c.3805T>C (p.Phe1269Leu) rs794727441 0.00001
NM_005045.4(RELN):c.3815C>T (p.Ala1272Val) rs375784624 0.00001
NM_005045.4(RELN):c.4340A>G (p.His1447Arg) rs755114220 0.00001
NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu) rs896069835 0.00001
NM_005045.4(RELN):c.4443A>T (p.Lys1481Asn) rs1383880137 0.00001
NM_005045.4(RELN):c.4457A>G (p.Asn1486Ser) rs202161592 0.00001
NM_005045.4(RELN):c.4481G>A (p.Arg1494Gln) rs540271067 0.00001
NM_005045.4(RELN):c.4564A>T (p.Ile1522Phe) rs757322020 0.00001
NM_005045.4(RELN):c.4681T>C (p.Ser1561Pro) rs1324441335 0.00001
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly) rs587780439 0.00001
NM_005045.4(RELN):c.5227T>C (p.Phe1743Leu) rs773427684 0.00001
NM_005045.4(RELN):c.5247C>A (p.Asn1749Lys) rs2484734785 0.00001
NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu) rs766384576 0.00001
NM_005045.4(RELN):c.5377T>G (p.Tyr1793Asp) rs760957004 0.00001
NM_005045.4(RELN):c.5656A>G (p.Ile1886Val) rs1204165079 0.00001
NM_005045.4(RELN):c.589A>G (p.Ser197Gly) rs756193988 0.00001
NM_005045.4(RELN):c.6164T>C (p.Leu2055Pro) rs1190177632 0.00001
NM_005045.4(RELN):c.6467G>T (p.Gly2156Val) rs1830260428 0.00001
NM_005045.4(RELN):c.6512A>G (p.Asp2171Gly) rs754745320 0.00001
NM_005045.4(RELN):c.653T>C (p.Ile218Thr) rs374181862 0.00001
NM_005045.4(RELN):c.6775A>G (p.Ser2259Gly) rs1272980155 0.00001
NM_005045.4(RELN):c.6958A>C (p.Asn2320His) rs754029045 0.00001
NM_005045.4(RELN):c.7014C>G (p.His2338Gln) rs1562879189 0.00001
NM_005045.4(RELN):c.7366T>C (p.Phe2456Leu) rs1228533413 0.00001
NM_005045.4(RELN):c.7451T>C (p.Met2484Thr) rs1402071263 0.00001
NM_005045.4(RELN):c.7489G>A (p.Val2497Ile) rs375694777 0.00001
NM_005045.4(RELN):c.7768C>T (p.Arg2590Cys) rs1313455580 0.00001
NM_005045.4(RELN):c.8083A>T (p.Ile2695Phe) rs1829531529 0.00001
NM_005045.4(RELN):c.875C>T (p.Ala292Val) rs138975479 0.00001
NM_005045.4(RELN):c.88T>A (p.Tyr30Asn) rs764175823 0.00001
NM_005045.4(RELN):c.1003G>A (p.Val335Ile)
NM_005045.4(RELN):c.1026C>A (p.Cys342Ter) rs1554404013
NM_005045.4(RELN):c.1141A>C (p.Lys381Gln) rs2484931391
NM_005045.4(RELN):c.1229A>G (p.Asp410Gly) rs778887714
NM_005045.4(RELN):c.1246A>T (p.Ile416Phe) rs2484900589
NM_005045.4(RELN):c.1552A>G (p.Lys518Glu) rs1832977510
NM_005045.4(RELN):c.164T>C (p.Val55Ala) rs1285117765
NM_005045.4(RELN):c.1711A>G (p.Met571Val) rs2117391388
NM_005045.4(RELN):c.1745C>T (p.Thr582Met) rs1038574999
NM_005045.4(RELN):c.1768A>C (p.Ser590Arg)
NM_005045.4(RELN):c.1783A>G (p.Thr595Ala)
NM_005045.4(RELN):c.1816A>G (p.Thr606Ala)
NM_005045.4(RELN):c.1829C>T (p.Pro610Leu)
NM_005045.4(RELN):c.1855C>A (p.Pro619Thr)
NM_005045.4(RELN):c.1860C>A (p.His620Gln) rs2484837825
NM_005045.4(RELN):c.1883A>T (p.Asn628Ile) rs1328965570
NM_005045.4(RELN):c.1948A>G (p.Ile650Val) rs371652596
NM_005045.4(RELN):c.1964C>G (p.Thr655Arg)
NM_005045.4(RELN):c.1985T>C (p.Met662Thr) rs2484833580
NM_005045.4(RELN):c.2009T>G (p.Ile670Ser)
NM_005045.4(RELN):c.2125A>T (p.Met709Leu) rs114577182
NM_005045.4(RELN):c.2156G>C (p.Arg719Thr) rs2484802861
NM_005045.4(RELN):c.218A>T (p.Glu73Val) rs2484917597
NM_005045.4(RELN):c.2204G>C (p.Ser735Thr)
NM_005045.4(RELN):c.2249A>G (p.Asn750Ser) rs764084018
NM_005045.4(RELN):c.2268G>C (p.Gln756His) rs2484802499
NM_005045.4(RELN):c.2359G>T (p.Ala787Ser) rs1254113534
NM_005045.4(RELN):c.2368C>G (p.Gln790Glu) rs1554395167
NM_005045.4(RELN):c.2396A>G (p.Tyr799Cys) rs2117348731
NM_005045.4(RELN):c.23G>T (p.Arg8Leu)
NM_005045.4(RELN):c.2461C>T (p.Pro821Ser) rs988934092
NM_005045.4(RELN):c.2534A>G (p.Tyr845Cys) rs2484788662
NM_005045.4(RELN):c.2557G>A (p.Val853Ile) rs1832418242
NM_005045.4(RELN):c.2810G>C (p.Gly937Ala) rs756821721
NM_005045.4(RELN):c.2834A>G (p.Asp945Gly) rs2484752785
NM_005045.4(RELN):c.2843T>G (p.Val948Gly)
NM_005045.4(RELN):c.2876C>G (p.Thr959Ser)
NM_005045.4(RELN):c.2917A>G (p.Ser973Gly) rs1292732442
NM_005045.4(RELN):c.3040A>C (p.Ser1014Arg) rs779851248
NM_005045.4(RELN):c.3104A>G (p.Asn1035Ser) rs1425464050
NM_005045.4(RELN):c.3164A>C (p.Gln1055Pro) rs1455749393
NM_005045.4(RELN):c.3272T>C (p.Ile1091Thr) rs2484735095
NM_005045.4(RELN):c.3541T>C (p.Phe1181Leu) rs773320636
NM_005045.4(RELN):c.3541T>G (p.Phe1181Val) rs773320636
NM_005045.4(RELN):c.3581G>T (p.Cys1194Phe) rs1337615733
NM_005045.4(RELN):c.3620A>C (p.Glu1207Ala)
NM_005045.4(RELN):c.3633G>T (p.Gln1211His)
NM_005045.4(RELN):c.3745A>G (p.Met1249Val) rs148751867
NM_005045.4(RELN):c.3829A>G (p.Met1277Val) rs555946635
NM_005045.4(RELN):c.3898G>A (p.Val1300Met)
NM_005045.4(RELN):c.3931A>C (p.Asn1311His)
NM_005045.4(RELN):c.3955_3957dup (p.Val1319dup) rs1831367827
NM_005045.4(RELN):c.4263C>A (p.Asp1421Glu) rs1235295586
NM_005045.4(RELN):c.4292T>C (p.Leu1431Pro)
NM_005045.4(RELN):c.429C>G (p.Phe143Leu)
NM_005045.4(RELN):c.4630C>G (p.His1544Asp) rs373010833
NM_005045.4(RELN):c.4838C>T (p.Ser1613Phe) rs201945386
NM_005045.4(RELN):c.4876G>A (p.Gly1626Ser)
NM_005045.4(RELN):c.488A>G (p.His163Arg) rs2116212240
NM_005045.4(RELN):c.4924A>G (p.Thr1642Ala) rs2484743036
NM_005045.4(RELN):c.5038C>A (p.His1680Asn) rs773182967
NM_005045.4(RELN):c.5089G>A (p.Val1697Ile) rs1239299955
NM_005045.4(RELN):c.5147T>C (p.Ile1716Thr)
NM_005045.4(RELN):c.5239C>G (p.Gln1747Glu) rs1584297224
NM_005045.4(RELN):c.5294C>T (p.Ala1765Val) rs2484734654
NM_005045.4(RELN):c.5308T>C (p.Trp1770Arg)
NM_005045.4(RELN):c.5360G>A (p.Arg1787Gln) rs372887562
NM_005045.4(RELN):c.5389G>A (p.Val1797Ile)
NM_005045.4(RELN):c.545-3C>T rs1175381014
NM_005045.4(RELN):c.5468C>A (p.Ala1823Glu) rs1244373166
NM_005045.4(RELN):c.5550T>G (p.Ile1850Met) rs2484727895
NM_005045.4(RELN):c.5615G>A (p.Ser1872Asn)
NM_005045.4(RELN):c.5679C>G (p.His1893Gln)
NM_005045.4(RELN):c.5788T>C (p.Tyr1930His) rs956716779
NM_005045.4(RELN):c.5995G>A (p.Val1999Ile) rs1830457350
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val) rs374232523
NM_005045.4(RELN):c.6190C>G (p.His2064Asp) rs767258528
NM_005045.4(RELN):c.6328G>A (p.Gly2110Arg) rs959592193
NM_005045.4(RELN):c.6382A>T (p.Ile2128Phe)
NM_005045.4(RELN):c.6445A>G (p.Ile2149Val) rs2117139774
NM_005045.4(RELN):c.663A>T (p.Glu221Asp) rs1355761301
NM_005045.4(RELN):c.6854G>A (p.Arg2285His) rs116394157
NM_005045.4(RELN):c.6863C>T (p.Ser2288Phe)
NM_005045.4(RELN):c.6865A>T (p.Thr2289Ser)
NM_005045.4(RELN):c.6920T>C (p.Val2307Ala)
NM_005045.4(RELN):c.7029G>T (p.Lys2343Asn)
NM_005045.4(RELN):c.712A>G (p.Asn238Asp) rs2484996146
NM_005045.4(RELN):c.713A>T (p.Asn238Ile)
NM_005045.4(RELN):c.7178A>G (p.Tyr2393Cys)
NM_005045.4(RELN):c.7231G>A (p.Val2411Ile) rs375160285
NM_005045.4(RELN):c.7361C>T (p.Thr2454Ile)
NM_005045.4(RELN):c.7605C>A (p.Asn2535Lys) rs750764421
NM_005045.4(RELN):c.7625T>A (p.Val2542Glu)
NM_005045.4(RELN):c.812G>T (p.Gly271Val) rs1554404338
NM_005045.4(RELN):c.820C>T (p.Arg274Cys) rs772745844
NM_005045.4(RELN):c.844A>T (p.Ile282Phe) rs753624426
NM_005045.4(RELN):c.862A>G (p.Lys288Glu) rs1834077767

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