ClinVar Miner

List of variants in gene RELN reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.1888A>C (p.Ser630Arg) rs115734214 0.02229
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902 0.01040
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_005045.4(RELN):c.3712A>C (p.Asn1238His) rs114003896 0.00468
NM_005045.4(RELN):c.5775A>G (p.Arg1925=) rs2711866 0.00464
NM_005045.4(RELN):c.4986C>G (p.Thr1662=) rs78221963 0.00412
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) rs114807343 0.00300
NM_005045.4(RELN):c.6228C>T (p.Ser2076=) rs115379833 0.00291
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240 0.00287
NM_005045.4(RELN):c.4408G>A (p.Val1470Ile) rs143213152 0.00232
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371 0.00231
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_005045.4(RELN):c.77C>T (p.Ala26Val) rs144557847 0.00154
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479 0.00140
NM_005045.4(RELN):c.3123C>T (p.Gly1041=) rs41276148 0.00123
NM_005045.4(RELN):c.3424T>A (p.Ser1142Thr) rs145484343 0.00114
NM_005045.4(RELN):c.474-7T>C rs55693709 0.00105
NM_005045.4(RELN):c.5880A>G (p.Thr1960=) rs362793 0.00105
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241 0.00098
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726 0.00091
NM_005045.4(RELN):c.4182A>G (p.Ser1394=) rs147496823 0.00080
NM_005045.4(RELN):c.6962C>T (p.Thr2321Met) rs116065504 0.00064
NM_005045.4(RELN):c.6939T>C (p.Ile2313=) rs113498433 0.00054
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654 0.00046
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_005045.4(RELN):c.5136G>A (p.Thr1712=) rs147933593 0.00038
NM_005045.4(RELN):c.877G>A (p.Asp293Asn) rs200289289 0.00033
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys) rs147657490 0.00032
NM_005045.4(RELN):c.4275A>G (p.Gly1425=) rs141617635 0.00031
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln) rs199553777 0.00031
NM_005045.4(RELN):c.5643G>A (p.Leu1881=) rs141387255 0.00029
NM_005045.4(RELN):c.5796C>T (p.Asn1932=) rs200299096 0.00029
NM_005045.4(RELN):c.2868C>T (p.His956=) rs362694 0.00026
NM_005045.4(RELN):c.1144-15T>C rs2301560 0.00025
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile) rs144978163 0.00021
NM_005045.4(RELN):c.5893C>A (p.Pro1965Thr) rs370624724 0.00019
NM_005045.4(RELN):c.2125A>G (p.Met709Val) rs114577182 0.00018
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_005045.4(RELN):c.5088T>C (p.Leu1696=) rs114551393 0.00016
NM_005045.4(RELN):c.227-6T>C rs769480867 0.00014
NM_005045.4(RELN):c.4893C>G (p.Asp1631Glu) rs201296719 0.00014
NM_005045.4(RELN):c.7268G>A (p.Arg2423His) rs140660860 0.00012
NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn) rs138978280 0.00011
NM_005045.4(RELN):c.5274G>T (p.Ala1758=) rs139102992 0.00010
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576 0.00009
NM_005045.4(RELN):c.4689C>T (p.Asp1563=) rs138694965 0.00009
NM_005045.4(RELN):c.576A>G (p.Leu192=) rs142874980 0.00009
NM_005045.4(RELN):c.1566G>C (p.Leu522Phe) rs200373269 0.00006
NM_005045.4(RELN):c.5246A>G (p.Asn1749Ser) rs755596079 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.3125C>T (p.Ser1042Leu) rs41276145 0.00005
NM_005045.4(RELN):c.6190C>T (p.His2064Tyr) rs767258528 0.00005
NM_005045.4(RELN):c.2084T>A (p.Phe695Tyr) rs750188972 0.00004
NM_005045.4(RELN):c.2095G>A (p.Ala699Thr) rs543233426 0.00004
NM_005045.4(RELN):c.4042G>A (p.Glu1348Lys) rs773149531 0.00004
NM_005045.4(RELN):c.7035C>T (p.Pro2345=) rs906374670 0.00004
NM_005045.4(RELN):c.1555G>T (p.Val519Phe) rs560704715 0.00002
NM_005045.4(RELN):c.1560G>A (p.Pro520=) rs41276157 0.00002
NM_005045.4(RELN):c.1948A>T (p.Ile650Phe) rs371652596 0.00002
NM_005045.4(RELN):c.2566A>G (p.Ile856Val) rs371309082 0.00002
NM_005045.4(RELN):c.3941G>A (p.Ser1314Asn) rs561294055 0.00002
NM_005045.4(RELN):c.4654A>G (p.Met1552Val) rs558308794 0.00002
NM_005045.4(RELN):c.5013C>A (p.Gly1671=) rs758902738 0.00002
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr) rs371614773 0.00002
NM_005045.4(RELN):c.6311G>A (p.Arg2104His) rs750878959 0.00002
NM_005045.4(RELN):c.6736G>A (p.Val2246Met) rs201561165 0.00002
NM_005045.4(RELN):c.8004C>T (p.Thr2668=) rs368087558 0.00002
NM_005045.4(RELN):c.8085C>T (p.Ile2695=) rs138241126 0.00002
NM_005045.4(RELN):c.1480A>G (p.Ile494Val) rs372015884 0.00001
NM_005045.4(RELN):c.1913C>T (p.Pro638Leu) rs114993407 0.00001
NM_005045.4(RELN):c.230C>T (p.Thr77Ile) rs150587706 0.00001
NM_005045.4(RELN):c.2425C>T (p.Leu809Phe) rs1452060313 0.00001
NM_005045.4(RELN):c.2442A>G (p.Ser814=) rs759128344 0.00001
NM_005045.4(RELN):c.293T>C (p.Val98Ala) rs1471699014 0.00001
NM_005045.4(RELN):c.2976G>A (p.Arg992=) rs1250895278 0.00001
NM_005045.4(RELN):c.4041C>T (p.Cys1347=) rs762723785 0.00001
NM_005045.4(RELN):c.4369A>C (p.Lys1457Gln) rs890007891 0.00001
NM_005045.4(RELN):c.4719G>A (p.Thr1573=) rs370566453 0.00001
NM_005045.4(RELN):c.5179C>T (p.Arg1727Trp) rs757649565 0.00001
NM_005045.4(RELN):c.5571A>G (p.Thr1857=) rs374234799 0.00001
NM_005045.4(RELN):c.568C>G (p.Pro190Ala) rs1200261994 0.00001
NM_005045.4(RELN):c.5717T>C (p.Ile1906Thr) rs772921952 0.00001
NM_005045.4(RELN):c.5730T>C (p.Asn1910=) rs761717557 0.00001
NM_005045.4(RELN):c.7108G>A (p.Val2370Ile) rs752238353 0.00001
NM_005045.4(RELN):c.7743T>C (p.Tyr2581=) rs1316095724 0.00001
NM_005045.4(RELN):c.7762A>C (p.Asn2588His) rs569919781 0.00001
NM_005045.4(RELN):c.-24GGC[4] rs55656324
NM_005045.4(RELN):c.-24GGC[7] rs55656324
NM_005045.4(RELN):c.-24GGC[9] (p.Met1_Glu2insGly) rs55656324
NM_005045.4(RELN):c.1227A>G (p.Val409=)
NM_005045.4(RELN):c.1248T>G (p.Ile416Met)
NM_005045.4(RELN):c.1526T>G (p.Leu509Arg)
NM_005045.4(RELN):c.1650G>C (p.Arg550Ser) rs2117391616
NM_005045.4(RELN):c.1789C>T (p.His597Tyr) rs779014769
NM_005045.4(RELN):c.2106G>A (p.Met702Ile)
NM_005045.4(RELN):c.2363C>T (p.Pro788Leu) rs1584363765
NM_005045.4(RELN):c.2485C>T (p.Pro829Ser) rs1832419887
NM_005045.4(RELN):c.2493T>C (p.Asp831=)
NM_005045.4(RELN):c.2699T>G (p.Leu900Arg) rs1832414894
NM_005045.4(RELN):c.3130G>A (p.Asp1044Asn)
NM_005045.4(RELN):c.3368A>G (p.Asp1123Gly)
NM_005045.4(RELN):c.3468G>A (p.Gln1156=)
NM_005045.4(RELN):c.3609G>A (p.Val1203=)
NM_005045.4(RELN):c.3745A>G (p.Met1249Val) rs148751867
NM_005045.4(RELN):c.3755T>C (p.Met1252Thr)
NM_005045.4(RELN):c.4010G>C (p.Gly1337Ala) rs1289449043
NM_005045.4(RELN):c.4013G>A (p.Cys1338Tyr)
NM_005045.4(RELN):c.4435G>A (p.Asp1479Asn) rs781311212
NM_005045.4(RELN):c.4485G>T (p.Thr1495=) rs542018962
NM_005045.4(RELN):c.4747+5G>A
NM_005045.4(RELN):c.4752G>A (p.Lys1584=)
NM_005045.4(RELN):c.4789G>C (p.Gly1597Arg)
NM_005045.4(RELN):c.4842A>G (p.Ile1614Met)
NM_005045.4(RELN):c.4931A>C (p.Asn1644Thr)
NM_005045.4(RELN):c.4962G>A (p.Trp1654Ter) rs1830731482
NM_005045.4(RELN):c.5011G>C (p.Gly1671Arg) rs939943472
NM_005045.4(RELN):c.5038C>A (p.His1680Asn) rs773182967
NM_005045.4(RELN):c.5085T>C (p.His1695=)
NM_005045.4(RELN):c.559A>G (p.Thr187Ala)
NM_005045.4(RELN):c.5612A>G (p.Lys1871Arg) rs769949666
NM_005045.4(RELN):c.5656A>G (p.Ile1886Val)
NM_005045.4(RELN):c.5712G>A (p.Thr1904=) rs1293070633
NM_005045.4(RELN):c.5746A>G (p.Thr1916Ala) rs768731886
NM_005045.4(RELN):c.588T>C (p.His196=)
NM_005045.4(RELN):c.6000A>G (p.Ser2000=) rs1554376650
NM_005045.4(RELN):c.6047A>G (p.Asn2016Ser)
NM_005045.4(RELN):c.6288G>A (p.Lys2096=) rs1345151350
NM_005045.4(RELN):c.6733C>G (p.Pro2245Ala)
NM_005045.4(RELN):c.7764C>T (p.Asn2588=)
NM_005045.4(RELN):c.7827C>G (p.Leu2609=)
NM_005045.4(RELN):c.78G>A (p.Ala26=) rs1196068638
NM_005045.4(RELN):c.7931_7932insT (p.Arg2644fs)
NM_005045.4(RELN):c.7942C>T (p.Leu2648=)
NM_005045.4(RELN):c.8019C>T (p.Thr2673=) rs1329064994
NM_005045.4(RELN):c.8073T>C (p.Pro2691=) rs775986044
NM_005045.4(RELN):c.874G>C (p.Ala292Pro) rs1478514178

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