ClinVar Miner

List of variants in gene combination RELN, SLC26A5 reported as uncertain significance for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 210
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.10355G>A (p.Arg3452Lys) rs149434986 0.00006
NM_005045.4(RELN):c.8141A>G (p.His2714Arg) rs746594396 0.00006
NM_005045.4(RELN):c.10358G>A (p.Arg3453Gln) rs200731411 0.00005
NM_005045.4(RELN):c.10097A>G (p.Asn3366Ser) rs148140675 0.00004
NM_005045.4(RELN):c.10373G>A (p.Arg3458Gln) rs766401565 0.00003
NM_005045.4(RELN):c.8552A>T (p.Tyr2851Phe) rs1319092399 0.00003
NM_005045.4(RELN):c.9091A>T (p.Ile3031Phe) rs773318461 0.00003
NM_005045.4(RELN):c.9076G>A (p.Val3026Met) rs766037038 0.00002
NM_005045.4(RELN):c.9826G>A (p.Ala3276Thr) rs781713047 0.00002
NM_005045.4(RELN):c.9977G>A (p.Arg3326Gln) rs766223649 0.00002
NM_005045.4(RELN):c.10120A>G (p.Ile3374Val) rs752768228 0.00001
NM_005045.4(RELN):c.10123G>A (p.Ala3375Thr) rs759744782 0.00001
NM_005045.4(RELN):c.10131C>G (p.His3377Gln) rs767876947 0.00001
NM_005045.4(RELN):c.10157A>G (p.Gln3386Arg) rs1562841823 0.00001
NM_005045.4(RELN):c.10177C>T (p.Pro3393Ser) rs771869485 0.00001
NM_005045.4(RELN):c.10190G>A (p.Arg3397Gln) rs866584196 0.00001
NM_005045.4(RELN):c.10210C>T (p.Arg3404Cys) rs772932844 0.00001
NM_005045.4(RELN):c.10232A>G (p.Asn3411Ser) rs747044548 0.00001
NM_005045.4(RELN):c.10288A>C (p.Thr3430Pro) rs1392502152 0.00001
NM_005045.4(RELN):c.10292G>A (p.Arg3431His) rs1442266027 0.00001
NM_005045.4(RELN):c.10372C>T (p.Arg3458Ter) rs866898263 0.00001
NM_005045.4(RELN):c.8182G>A (p.Gly2728Ser) rs1463489255 0.00001
NM_005045.4(RELN):c.8248A>C (p.Thr2750Pro) rs1168374024 0.00001
NM_005045.4(RELN):c.8269T>C (p.Phe2757Leu) rs560897786 0.00001
NM_005045.4(RELN):c.8347G>A (p.Gly2783Ser) rs794727997 0.00001
NM_005045.4(RELN):c.8363A>G (p.Tyr2788Cys) rs1259871212 0.00001
NM_005045.4(RELN):c.8378G>A (p.Cys2793Tyr) rs774015567 0.00001
NM_005045.4(RELN):c.8389G>A (p.Asp2797Asn) rs765919904 0.00001
NM_005045.4(RELN):c.8490-3T>C rs373564931 0.00001
NM_005045.4(RELN):c.8528T>C (p.Met2843Thr) rs1391842678 0.00001
NM_005045.4(RELN):c.8542G>A (p.Asp2848Asn) rs147624295 0.00001
NM_005045.4(RELN):c.8667+6G>C rs770342200 0.00001
NM_005045.4(RELN):c.8672T>C (p.Phe2891Ser) rs752516448 0.00001
NM_005045.4(RELN):c.8797A>G (p.Thr2933Ala) rs1172953100 0.00001
NM_005045.4(RELN):c.8884A>G (p.Met2962Val) rs772961648 0.00001
NM_005045.4(RELN):c.9019C>T (p.Leu3007Phe) rs752135641 0.00001
NM_005045.4(RELN):c.9086A>G (p.Asn3029Ser) rs886044056 0.00001
NM_005045.4(RELN):c.9113G>A (p.Arg3038His) rs1828848847 0.00001
NM_005045.4(RELN):c.9220A>T (p.Ser3074Cys) rs774630932 0.00001
NM_005045.4(RELN):c.9350G>C (p.Gly3117Ala) rs376611357 0.00001
NM_005045.4(RELN):c.9369+6G>C rs770317549 0.00001
NM_005045.4(RELN):c.9832G>C (p.Val3278Leu) rs1381921892 0.00001
NM_005045.4(RELN):c.9838G>A (p.Glu3280Lys) rs1354755133 0.00001
NM_005045.4(RELN):c.10022A>G (p.Gln3341Arg) rs752958651
NM_005045.4(RELN):c.10037A>G (p.Asn3346Ser) rs1192573356
NM_005045.4(RELN):c.10038C>A (p.Asn3346Lys)
NM_005045.4(RELN):c.10039A>C (p.Ser3347Arg) rs1450247215
NM_005045.4(RELN):c.10040G>A (p.Ser3347Asn) rs1828326766
NM_005045.4(RELN):c.10049G>A (p.Ser3350Asn)
NM_005045.4(RELN):c.10052G>T (p.Gly3351Val) rs2116978384
NM_005045.4(RELN):c.10054C>A (p.Pro3352Thr) rs1202492754
NM_005045.4(RELN):c.10100A>G (p.Asn3367Ser)
NM_005045.4(RELN):c.10106T>C (p.Ile3369Thr)
NM_005045.4(RELN):c.10135C>T (p.Pro3379Ser) rs1288993333
NM_005045.4(RELN):c.10181+7G>A rs1554360619
NM_005045.4(RELN):c.10189C>T (p.Arg3397Trp)
NM_005045.4(RELN):c.10207C>G (p.Leu3403Val) rs2116975944
NM_005045.4(RELN):c.10211G>A (p.Arg3404His) rs1473736832
NM_005045.4(RELN):c.10231A>G (p.Asn3411Asp)
NM_005045.4(RELN):c.10248T>A (p.Asp3416Glu) rs1828293057
NM_005045.4(RELN):c.10252T>C (p.Trp3418Arg)
NM_005045.4(RELN):c.10255G>T (p.Ala3419Ser) rs2116975803
NM_005045.4(RELN):c.10273G>A (p.Val3425Ile) rs2116975749
NM_005045.4(RELN):c.10273GTC[1] (p.Val3426del) rs1159588480
NM_005045.4(RELN):c.10303T>C (p.Tyr3435His) rs1827903281
NM_005045.4(RELN):c.10306A>G (p.Met3436Val) rs1257276738
NM_005045.4(RELN):c.10307TGA[1] (p.Met3437del) rs1406481652
NM_005045.4(RELN):c.10322_10324del (p.Arg3441del) rs770480930
NM_005045.4(RELN):c.10340A>G (p.His3447Arg)
NM_005045.4(RELN):c.10352G>T (p.Arg3451Ile) rs2116945728
NM_005045.4(RELN):c.10381T>C (p.Ter3461Arg)
NM_005045.4(RELN):c.8123A>C (p.Asn2708Thr) rs1829391748
NM_005045.4(RELN):c.8130C>A (p.His2710Gln)
NM_005045.4(RELN):c.8155G>A (p.Val2719Ile)
NM_005045.4(RELN):c.8159A>G (p.Glu2720Gly) rs1829390259
NM_005045.4(RELN):c.8171A>T (p.Asp2724Val)
NM_005045.4(RELN):c.8181T>A (p.Asp2727Glu)
NM_005045.4(RELN):c.8183G>A (p.Gly2728Asp)
NM_005045.4(RELN):c.8195G>T (p.Cys2732Phe) rs777843062
NM_005045.4(RELN):c.8198G>A (p.Gly2733Asp) rs1296648504
NM_005045.4(RELN):c.8203C>T (p.His2735Tyr) rs1219212571
NM_005045.4(RELN):c.8225C>T (p.Ala2742Val)
NM_005045.4(RELN):c.8249C>T (p.Thr2750Ile)
NM_005045.4(RELN):c.8254G>A (p.Gly2752Ser) rs968146584
NM_005045.4(RELN):c.8259G>C (p.Trp2753Cys)
NM_005045.4(RELN):c.8263A>G (p.Met2755Val)
NM_005045.4(RELN):c.8281G>T (p.Val2761Phe) rs1829094065
NM_005045.4(RELN):c.8306T>C (p.Ile2769Thr) rs997515801
NM_005045.4(RELN):c.8314A>C (p.Asn2772His)
NM_005045.4(RELN):c.8315A>T (p.Asn2772Ile)
NM_005045.4(RELN):c.8327T>G (p.Val2776Gly)
NM_005045.4(RELN):c.8335T>A (p.Ser2779Thr) rs1829091955
NM_005045.4(RELN):c.8371C>T (p.Pro2791Ser) rs2117039679
NM_005045.4(RELN):c.8386G>A (p.Ala2796Thr)
NM_005045.4(RELN):c.8390A>G (p.Asp2797Gly) rs1829089680
NM_005045.4(RELN):c.8391C>G (p.Asp2797Glu) rs1829089585
NM_005045.4(RELN):c.8392C>T (p.Pro2798Ser)
NM_005045.4(RELN):c.8398T>C (p.Cys2800Arg)
NM_005045.4(RELN):c.8404G>C (p.Gly2802Arg)
NM_005045.4(RELN):c.8411T>C (p.Val2804Ala) rs192835206
NM_005045.4(RELN):c.8414C>T (p.Ser2805Phe)
NM_005045.4(RELN):c.8430C>A (p.Phe2810Leu)
NM_005045.4(RELN):c.8438C>A (p.Thr2813Asn)
NM_005045.4(RELN):c.8440A>G (p.Lys2814Glu) rs2117039456
NM_005045.4(RELN):c.8445G>T (p.Gly2815=)
NM_005045.4(RELN):c.8453G>T (p.Arg2818Met)
NM_005045.4(RELN):c.8470C>T (p.Pro2824Ser) rs1224908089
NM_005045.4(RELN):c.8486G>A (p.Gly2829Glu)
NM_005045.4(RELN):c.8492C>T (p.Pro2831Leu)
NM_005045.4(RELN):c.8494G>C (p.Val2832Leu)
NM_005045.4(RELN):c.8495T>C (p.Val2832Ala) rs1257978206
NM_005045.4(RELN):c.8500T>C (p.Phe2834Leu)
NM_005045.4(RELN):c.8516A>G (p.Lys2839Arg)
NM_005045.4(RELN):c.8534G>T (p.Trp2845Leu)
NM_005045.4(RELN):c.8537C>T (p.Ala2846Val)
NM_005045.4(RELN):c.8539A>G (p.Ile2847Val)
NM_005045.4(RELN):c.8551T>C (p.Tyr2851His)
NM_005045.4(RELN):c.8575A>G (p.Asn2859Asp) rs1829002656
NM_005045.4(RELN):c.8578T>G (p.Cys2860Gly) rs1829002405
NM_005045.4(RELN):c.8590G>A (p.Gly2864Arg) rs1456617471
NM_005045.4(RELN):c.8605G>C (p.Glu2869Gln)
NM_005045.4(RELN):c.8624C>G (p.Pro2875Arg) rs761738403
NM_005045.4(RELN):c.8651T>C (p.Leu2884Ser) rs1829000128
NM_005045.4(RELN):c.8653A>T (p.Thr2885Ser)
NM_005045.4(RELN):c.8656C>T (p.His2886Tyr) rs749712401
NM_005045.4(RELN):c.8657A>G (p.His2886Arg) rs778109079
NM_005045.4(RELN):c.8663T>C (p.Leu2888Pro)
NM_005045.4(RELN):c.8667+6G>A
NM_005045.4(RELN):c.8668A>G (p.Thr2890Ala)
NM_005045.4(RELN):c.8672T>A (p.Phe2891Tyr) rs752516448
NM_005045.4(RELN):c.8673C>A (p.Phe2891Leu) rs200157006
NM_005045.4(RELN):c.8683C>A (p.Arg2895Ser)
NM_005045.4(RELN):c.8683C>T (p.Arg2895Cys)
NM_005045.4(RELN):c.8684G>A (p.Arg2895His)
NM_005045.4(RELN):c.8710G>T (p.Asp2904Tyr) rs1828900147
NM_005045.4(RELN):c.8716T>C (p.Trp2906Arg)
NM_005045.4(RELN):c.8723C>T (p.Ser2908Phe)
NM_005045.4(RELN):c.8732G>T (p.Gly2911Val)
NM_005045.4(RELN):c.8737A>G (p.Ser2913Gly) rs2117025482
NM_005045.4(RELN):c.8792G>A (p.Gly2931Glu) rs1465519249
NM_005045.4(RELN):c.8809G>A (p.Ala2937Thr) rs750491016
NM_005045.4(RELN):c.8810C>T (p.Ala2937Val) rs765433534
NM_005045.4(RELN):c.8812G>A (p.Val2938Ile)
NM_005045.4(RELN):c.8827G>C (p.Asp2943His) rs1828895929
NM_005045.4(RELN):c.8861G>A (p.Gly2954Glu)
NM_005045.4(RELN):c.8864G>A (p.Arg2955His)
NM_005045.4(RELN):c.8879ACA[1] (p.Asn2961del)
NM_005045.4(RELN):c.8888C>T (p.Thr2963Ile)
NM_005045.4(RELN):c.8912G>A (p.Arg2971Gln) rs1562852978
NM_005045.4(RELN):c.8920G>A (p.Gly2974Ser)
NM_005045.4(RELN):c.8930T>C (p.Leu2977Ser)
NM_005045.4(RELN):c.8943C>A (p.Thr2981=) rs199505446
NM_005045.4(RELN):c.8950+12G>A
NM_005045.4(RELN):c.8950+4T>A
NM_005045.4(RELN):c.8953A>G (p.Ile2985Val)
NM_005045.4(RELN):c.8957C>T (p.Thr2986Ile)
NM_005045.4(RELN):c.8962A>T (p.Thr2988Ser)
NM_005045.4(RELN):c.8966T>C (p.Leu2989Ser) rs2117021480
NM_005045.4(RELN):c.8967G>T (p.Leu2989Phe) rs1828853834
NM_005045.4(RELN):c.9005G>C (p.Arg3002Thr) rs758922383
NM_005045.4(RELN):c.9018A>G (p.Ile3006Met)
NM_005045.4(RELN):c.9022C>T (p.Leu3008Phe) rs2117021193
NM_005045.4(RELN):c.9030_9032del (p.Glu3010del) rs1828851549
NM_005045.4(RELN):c.9053G>A (p.Arg3018Gln) rs1828850685
NM_005045.4(RELN):c.9053G>T (p.Arg3018Leu) rs1828850685
NM_005045.4(RELN):c.9095T>A (p.Val3032Glu)
NM_005045.4(RELN):c.9095T>C (p.Val3032Ala) rs1828849563
NM_005045.4(RELN):c.9108G>A (p.Val3036=)
NM_005045.4(RELN):c.9172T>A (p.Leu3058Met) rs2286261
NM_005045.4(RELN):c.9194-10T>A rs1242391167
NM_005045.4(RELN):c.9205C>A (p.His3069Asn) rs1828826425
NM_005045.4(RELN):c.9230C>T (p.Pro3077Leu) rs2117018752
NM_005045.4(RELN):c.9233A>G (p.Asn3078Ser)
NM_005045.4(RELN):c.9235G>T (p.Ala3079Ser)
NM_005045.4(RELN):c.9237_9248del (p.Val3080_Ala3083del) rs2117018688
NM_005045.4(RELN):c.9248C>A (p.Ala3083Glu)
NM_005045.4(RELN):c.9248C>G (p.Ala3083Gly) rs1828825003
NM_005045.4(RELN):c.9263A>G (p.Asn3088Ser)
NM_005045.4(RELN):c.9289A>G (p.Asn3097Asp) rs2117018592
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967
NM_005045.4(RELN):c.9319C>G (p.Leu3107Val) rs764063544
NM_005045.4(RELN):c.9347C>T (p.Pro3116Leu) rs1166597421
NM_005045.4(RELN):c.9357G>A (p.Met3119Ile)
NM_005045.4(RELN):c.9369+6G>A
NM_005045.4(RELN):c.9379G>T (p.Gly3127Cys)
NM_005045.4(RELN):c.9394T>G (p.Ser3132Ala) rs2117007337
NM_005045.4(RELN):c.9398GTG[1] (p.Gly3134del)
NM_005045.4(RELN):c.9406C>G (p.Leu3136Val) rs767535167
NM_005045.4(RELN):c.9419T>G (p.Met3140Arg)
NM_005045.4(RELN):c.9439G>T (p.Ala3147Ser) rs150485168
NM_005045.4(RELN):c.9442A>C (p.Arg3148=)
NM_005045.4(RELN):c.9443+3T>G
NM_005045.4(RELN):c.9443+4T>C rs1828687122
NM_005045.4(RELN):c.9764-5T>G
NM_005045.4(RELN):c.9793C>A (p.Leu3265Ile)
NM_005045.4(RELN):c.9794T>C (p.Leu3265Pro)
NM_005045.4(RELN):c.9802T>C (p.Tyr3268His)
NM_005045.4(RELN):c.9818T>C (p.Phe3273Ser) rs1828440525
NM_005045.4(RELN):c.9826G>T (p.Ala3276Ser)
NM_005045.4(RELN):c.9840G>T (p.Glu3280Asp)
NM_005045.4(RELN):c.9857T>A (p.Ile3286Asn) rs1828439294
NM_005045.4(RELN):c.9880G>A (p.Gly3294Ser)
NM_005045.4(RELN):c.9887G>A (p.Gly3296Glu)
NM_005045.4(RELN):c.9958A>C (p.Lys3320Gln)
NM_005045.4(RELN):c.9962C>G (p.Pro3321Arg) rs1828434848
NM_005045.4(RELN):c.9973A>G (p.Thr3325Ala)
NM_005045.4(RELN):c.9979G>A (p.Ala3327Thr)
NM_005045.4(RELN):c.9983+5C>A rs1210513203
NM_005045.4(RELN):c.9983+5C>T
NM_005045.4(RELN):c.9991A>G (p.Met3331Val) rs1554360669

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.