ClinVar Miner

List of variants in gene RELN studied for Norman-Roberts syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 211
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HGVS dbSNP
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726
NM_005045.4(RELN):c.1013T>G (p.Val338Gly) rs200513558
NM_005045.4(RELN):c.1055A>G (p.Asn352Ser)
NM_005045.4(RELN):c.105_107CTT[1] (p.Phe38del) rs1563127968
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg) rs143050366
NM_005045.4(RELN):c.1194C>T (p.Gly398=) rs761288381
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile) rs144978163
NM_005045.4(RELN):c.1250A>G (p.Gln417Arg) rs1554402126
NM_005045.4(RELN):c.1252G>A (p.Glu418Lys) rs983845835
NM_005045.4(RELN):c.1277G>A (p.Ser426Asn) rs568950079
NM_005045.4(RELN):c.127C>A (p.His43Asn) rs369522512
NM_005045.4(RELN):c.1290-3del rs146986040
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln) rs56146903
NM_005045.4(RELN):c.1379A>C (p.Lys460Thr) rs779530655
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092
NM_005045.4(RELN):c.1483A>G (p.Ile495Val) rs150850005
NM_005045.4(RELN):c.1596G>A (p.Gln532=) rs41276154
NM_005045.4(RELN):c.1621A>G (p.Arg541Gly) rs1562941047
NM_005045.4(RELN):c.1708C>G (p.His570Asp) rs374546580
NM_005045.4(RELN):c.1735G>A (p.Gly579Arg)
NM_005045.4(RELN):c.1760A>G (p.Asn587Ser) rs1562940963
NM_005045.4(RELN):c.1796G>A (p.Arg599His)
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536
NM_005045.4(RELN):c.179A>G (p.His60Arg)
NM_005045.4(RELN):c.1817C>T (p.Thr606Ile) rs540111252
NM_005045.4(RELN):c.1820A>G (p.Glu607Gly) rs1554397636
NM_005045.4(RELN):c.1880A>G (p.Glu627Gly)
NM_005045.4(RELN):c.1888A>C (p.Ser630Arg) rs115734214
NM_005045.4(RELN):c.1901G>A (p.Arg634Gln)
NM_005045.4(RELN):c.1906A>G (p.Thr636Ala) rs756344611
NM_005045.4(RELN):c.1924G>A (p.Ala642Thr) rs201735865
NM_005045.4(RELN):c.1948A>T (p.Ile650Phe) rs371652596
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262
NM_005045.4(RELN):c.2039G>T (p.Gly680Val) rs1562935595
NM_005045.4(RELN):c.2071T>G (p.Cys691Gly) rs1562933794
NM_005045.4(RELN):c.2125A>G (p.Met709Val) rs114577182
NM_005045.4(RELN):c.2158C>G (p.Leu720Val) rs1554395337
NM_005045.4(RELN):c.2176T>A (p.Phe726Ile) rs200007424
NM_005045.4(RELN):c.22C>G (p.Arg8Gly) rs1470522542
NM_005045.4(RELN):c.2313G>T (p.Gln771His) rs777581847
NM_005045.4(RELN):c.2352G>A (p.Thr784=) rs148510862
NM_005045.4(RELN):c.2434C>G (p.His812Asp) rs3025968
NM_005045.4(RELN):c.2440T>C (p.Ser814Pro)
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe) rs144653976
NM_005045.4(RELN):c.2453A>G (p.Tyr818Cys) rs771201055
NM_005045.4(RELN):c.2476G>A (p.Val826Ile)
NM_005045.4(RELN):c.2477T>C (p.Val826Ala) rs1554394300
NM_005045.4(RELN):c.2563G>A (p.Ala855Thr)
NM_005045.4(RELN):c.2717C>G (p.Ser906Cys) rs1174257090
NM_005045.4(RELN):c.2725G>A (p.Ala909Thr) rs1167526294
NM_005045.4(RELN):c.2779A>G (p.Met927Val) rs546154419
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962
NM_005045.4(RELN):c.2938G>C (p.Ala980Pro)
NM_005045.4(RELN):c.2944A>C (p.Ile982Leu) rs143972828
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly) rs138598422
NM_005045.4(RELN):c.2989C>T (p.Leu997Phe) rs362691
NM_005045.4(RELN):c.2992C>G (p.Leu998Val) rs201003473
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr) rs757915171
NM_005045.4(RELN):c.3133C>T (p.His1045Tyr) rs1554389286
NM_005045.4(RELN):c.3164A>G (p.Gln1055Arg)
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu) rs116225248
NM_005045.4(RELN):c.3203C>A (p.Thr1068Lys) rs758968274
NM_005045.4(RELN):c.3209T>C (p.Met1070Thr) rs1554389059
NM_005045.4(RELN):c.3210G>A (p.Met1070Ile) rs1298824421
NM_005045.4(RELN):c.329dup (p.Gly111fs) rs797045912
NM_005045.4(RELN):c.3483G>A (p.Gly1161=) rs1254504314
NM_005045.4(RELN):c.3593G>A (p.Arg1198His)
NM_005045.4(RELN):c.3607G>A (p.Val1203Met)
NM_005045.4(RELN):c.3617G>A (p.Gly1206Glu) rs866737719
NM_005045.4(RELN):c.3622G>A (p.Asp1208Asn) rs1230772547
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240
NM_005045.4(RELN):c.3655A>G (p.Ile1219Val) rs1057524179
NM_005045.4(RELN):c.3667A>G (p.Lys1223Glu) rs200269227
NM_005045.4(RELN):c.3680T>C (p.Ile1227Thr)
NM_005045.4(RELN):c.3706C>T (p.Pro1236Ser) rs750302438
NM_005045.4(RELN):c.3786A>G (p.Gly1262=) rs577453361
NM_005045.4(RELN):c.3849T>G (p.Asp1283Glu)
NM_005045.4(RELN):c.3906G>C (p.Gln1302His) rs1554386837
NM_005045.4(RELN):c.4019C>T (p.Pro1340Leu)
NM_005045.4(RELN):c.4075A>G (p.Met1359Val)
NM_005045.4(RELN):c.408G>C (p.Leu136=) rs1554427416
NM_005045.4(RELN):c.4110A>C (p.Arg1370Ser)
NM_005045.4(RELN):c.4133C>G (p.Ser1378Cys)
NM_005045.4(RELN):c.4191C>T (p.Asn1397=) rs544646610
NM_005045.4(RELN):c.4214G>T (p.Gly1405Val) rs1562900485
NM_005045.4(RELN):c.4230G>A (p.Glu1410=) rs184601053
NM_005045.4(RELN):c.4263C>A (p.Asp1421Glu)
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) rs115577014
NM_005045.4(RELN):c.4354G>A (p.Asp1452Asn) rs114446781
NM_005045.4(RELN):c.4397C>T (p.Thr1466Ile)
NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu) rs896069835
NM_005045.4(RELN):c.4472G>A (p.Arg1491Lys) rs764417211
NM_005045.4(RELN):c.4480C>T (p.Arg1494Trp) rs140263617
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576
NM_005045.4(RELN):c.450G>A (p.Ala150=)
NM_005045.4(RELN):c.4517T>A (p.Val1506Asp) rs1554381609
NM_005045.4(RELN):c.4609A>T (p.Asn1537Tyr) rs753346658
NM_005045.4(RELN):c.4630C>T (p.His1544Tyr) rs373010833
NM_005045.4(RELN):c.4640G>A (p.Arg1547Gln)
NM_005045.4(RELN):c.4703C>T (p.Ala1568Val) rs767133532
NM_005045.4(RELN):c.4843G>C (p.Asp1615His) rs375040526
NM_005045.4(RELN):c.4893C>G (p.Asp1631Glu) rs201296719
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly) rs587780439
NM_005045.4(RELN):c.490C>T (p.Arg164Trp) rs776886354
NM_005045.4(RELN):c.4936+5A>G rs1554380236
NM_005045.4(RELN):c.4937-14_4937-13dup rs35268159
NM_005045.4(RELN):c.4937-4del rs35268159
NM_005045.4(RELN):c.4943C>T (p.Pro1648Leu) rs749050390
NM_005045.4(RELN):c.4985C>T (p.Thr1662Ile) rs750833122
NM_005045.4(RELN):c.5005A>C (p.Ser1669Arg) rs1481028795
NM_005045.4(RELN):c.5016T>C (p.Cys1672=) rs983510937
NM_005045.4(RELN):c.5077G>A (p.Asp1693Asn) rs1487716758
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys) rs147657490
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736
NM_005045.4(RELN):c.5166C>G (p.Phe1722Leu) rs886061856
NM_005045.4(RELN):c.5193C>A (p.Tyr1731Ter) rs587780435
NM_005045.4(RELN):c.5194C>T (p.Leu1732Phe) rs755485060
NM_005045.4(RELN):c.5195_5208dup (p.Ile1737fs) rs587780436
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln) rs199553777
NM_005045.4(RELN):c.5258G>A (p.Gly1753Glu) rs1554379129
NM_005045.4(RELN):c.5273C>T (p.Ala1758Val)
NM_005045.4(RELN):c.5344C>T (p.Arg1782Cys) rs138576725
NM_005045.4(RELN):c.5352-9C>G rs758405612
NM_005045.4(RELN):c.5359C>T (p.Arg1787Trp)
NM_005045.4(RELN):c.5408T>C (p.Ile1803Thr)
NM_005045.4(RELN):c.5468C>A (p.Ala1823Glu) rs1244373166
NM_005045.4(RELN):c.5489G>A (p.Gly1830Asp) rs1255854701
NM_005045.4(RELN):c.5498T>C (p.Ile1833Thr) rs766824018
NM_005045.4(RELN):c.5529+10A>T rs371510474
NM_005045.4(RELN):c.5587C>T (p.Gln1863Ter) rs797045915
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val) rs147026512
NM_005045.4(RELN):c.5684T>C (p.Met1895Thr)
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met) rs114190729
NM_005045.4(RELN):c.5717T>C (p.Ile1906Thr)
NM_005045.4(RELN):c.576A>G (p.Leu192=) rs142874980
NM_005045.4(RELN):c.577+9T>C rs750186579
NM_005045.4(RELN):c.578-3T>C rs607755
NM_005045.4(RELN):c.578-3del rs1047136329
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553
NM_005045.4(RELN):c.5893C>A (p.Pro1965Thr)
NM_005045.4(RELN):c.5903A>T (p.Asp1968Val) rs1284690672
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn) rs143948239
NM_005045.4(RELN):c.5969+1G>A rs869320767
NM_005045.4(RELN):c.59C>T (p.Thr20Met) rs145135688
NM_005045.4(RELN):c.6031C>T (p.Arg2011Cys) rs374628146
NM_005045.4(RELN):c.6032G>A (p.Arg2011His) rs762880714
NM_005045.4(RELN):c.6072+7G>T rs777197865
NM_005045.4(RELN):c.6078C>T (p.Asn2026=) rs79610081
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779
NM_005045.4(RELN):c.6147G>A (p.Ala2049=) rs116750302
NM_005045.4(RELN):c.6157C>T (p.Leu2053Phe)
NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser) rs200409290
NM_005045.4(RELN):c.6170T>G (p.Leu2057Arg)
NM_005045.4(RELN):c.6190C>G (p.His2064Asp)
NM_005045.4(RELN):c.6190C>T (p.His2064Tyr) rs767258528
NM_005045.4(RELN):c.6193G>A (p.Val2065Ile) rs201627577
NM_005045.4(RELN):c.6241G>A (p.Ala2081Thr)
NM_005045.4(RELN):c.6274G>A (p.Val2092Met) rs752081680
NM_005045.4(RELN):c.6278A>C (p.His2093Pro) rs149152189
NM_005045.4(RELN):c.6303-9C>T rs200658237
NM_005045.4(RELN):c.6385G>A (p.Gly2129Ser) rs1228682428
NM_005045.4(RELN):c.6401A>G (p.Glu2134Gly) rs1023433954
NM_005045.4(RELN):c.6404T>C (p.Met2135Thr) rs769784565
NM_005045.4(RELN):c.6429C>T (p.Ile2143=) rs1554374836
NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp) rs144387303
NM_005045.4(RELN):c.6512A>G (p.Asp2171Gly) rs754745320
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597
NM_005045.4(RELN):c.6576A>T (p.Arg2192=)
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) rs200010849
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser) rs201422815
NM_005045.4(RELN):c.6839T>A (p.Ile2280Lys)
NM_005045.4(RELN):c.6854G>T (p.Arg2285Leu) rs116394157
NM_005045.4(RELN):c.6875G>A (p.Arg2292His) rs565382144
NM_005045.4(RELN):c.690G>C (p.Gln230His) rs1302068842
NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn) rs138978280
NM_005045.4(RELN):c.6938T>C (p.Ile2313Thr) rs141004002
NM_005045.4(RELN):c.6976G>A (p.Asp2326Asn)
NM_005045.4(RELN):c.697G>A (p.Ala233Thr) rs181961566
NM_005045.4(RELN):c.7036G>A (p.Val2346Met)
NM_005045.4(RELN):c.7055A>T (p.Asp2352Val) rs143688278
NM_005045.4(RELN):c.7110T>C (p.Val2370=) rs362746
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654
NM_005045.4(RELN):c.7128C>G (p.Ser2376=) rs116057819
NM_005045.4(RELN):c.7147G>A (p.Ala2383Thr) rs978248682
NM_005045.4(RELN):c.7180+8T>C rs1022021889
NM_005045.4(RELN):c.7310A>G (p.Lys2437Arg) rs762951578
NM_005045.4(RELN):c.7423G>A (p.Val2475Ile) rs764015748
NM_005045.4(RELN):c.7490+1G>A rs587780437
NM_005045.4(RELN):c.7498G>A (p.Glu2500Lys) rs1554369707
NM_005045.4(RELN):c.7580C>A (p.Ser2527Tyr) rs114620403
NM_005045.4(RELN):c.7590C>A (p.Asn2530Lys) rs766869538
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) rs116634494
NM_005045.4(RELN):c.7668G>C (p.Gly2556=) rs1554369642
NM_005045.4(RELN):c.7713T>C (p.Asn2571=) rs1359170573
NM_005045.4(RELN):c.7887T>C (p.Pro2629=) rs56345626
NM_005045.4(RELN):c.7897G>A (p.Glu2633Lys) rs958494439
NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys) rs587780438
NM_005045.4(RELN):c.7915C>T (p.Arg2639Cys) rs770944264
NM_005045.4(RELN):c.7943T>C (p.Leu2648Pro)
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673
NM_005045.4(RELN):c.8028C>T (p.Ser2676=) rs777057396
NM_005045.4(RELN):c.8029G>A (p.Ala2677Thr) rs747571208
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864
NM_005045.4(RELN):c.8095A>G (p.Met2699Val)
NM_005045.4(RELN):c.8114C>T (p.Thr2705Ile) rs1554368281
NM_005045.4(RELN):c.8119+6T>G rs767551473
NM_005045.4(RELN):c.855A>G (p.Leu285=) rs749680856
NM_005045.4(RELN):c.892G>A (p.Glu298Lys) rs563525929
RELN, 148-BP DEL
RELN, IVS37AS, G-A, -1

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