ClinVar Miner

List of variants in gene RELN reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.77C>T (p.Ala26Val) rs144557847 0.00154
NM_005045.4(RELN):c.474-7T>C rs55693709 0.00105
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.7644G>A (p.Ser2548=) rs150743664 0.00055
NM_005045.4(RELN):c.6939T>C (p.Ile2313=) rs113498433 0.00054
NM_005045.4(RELN):c.1483A>G (p.Ile495Val) rs150850005 0.00034
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.5796C>T (p.Asn1932=) rs200299096 0.00029
NM_005045.4(RELN):c.1144-15T>C rs2301560 0.00025
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg) rs143050366 0.00024
NM_005045.4(RELN):c.4872A>G (p.Gln1624=) rs149121159 0.00024
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser) rs201422815 0.00021
NM_005045.4(RELN):c.4893C>G (p.Asp1631Glu) rs201296719 0.00014
NM_005045.4(RELN):c.3667A>G (p.Lys1223Glu) rs200269227 0.00011
NM_005045.4(RELN):c.3712-5A>G rs370671369 0.00006
NM_005045.4(RELN):c.2112C>T (p.Ser704=) rs760775607 0.00005
NM_005045.4(RELN):c.3125C>T (p.Ser1042Leu) rs41276145 0.00005
NM_005045.4(RELN):c.4042G>A (p.Glu1348Lys) rs773149531 0.00004
NM_005045.4(RELN):c.795A>G (p.Gln265=) rs749580328 0.00003
NM_005045.4(RELN):c.6213C>T (p.Thr2071=) rs554215103 0.00002
NM_005045.4(RELN):c.1277G>A (p.Ser426Asn) rs568950079 0.00001
NM_005045.4(RELN):c.2434C>G (p.His812Asp) rs3025968 0.00001
NM_005045.4(RELN):c.408G>C (p.Leu136=) rs1554427416 0.00001
NM_005045.4(RELN):c.4484C>T (p.Thr1495Met) rs369404310 0.00001
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly) rs587780439 0.00001
NM_005045.4(RELN):c.5790T>C (p.Tyr1930=) rs797045916 0.00001
NM_005045.4(RELN):c.7093G>A (p.Val2365Met) rs756299161 0.00001
NM_005045.4(RELN):c.7160C>T (p.Ser2387Leu) rs539045917 0.00001
NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly) rs55656324
NM_005045.4(RELN):c.-24GGC[15] (p.Met1_Glu2insGlyGlyGlyGlyGlyGlyGly) rs55656324
NM_005045.4(RELN):c.1144-10del rs2115696489
NM_005045.4(RELN):c.2324G>T (p.Arg775Ile) rs2117349033
NM_005045.4(RELN):c.2604C>G (p.Ser868Arg) rs1426251919
NM_005045.4(RELN):c.3173A>C (p.Glu1058Ala) rs2117271793
NM_005045.4(RELN):c.32T>G (p.Phe11Cys) rs764120718
NM_005045.4(RELN):c.4640G>T (p.Arg1547Leu) rs774277969
NM_005045.4(RELN):c.4746T>C (p.His1582=) rs797045913
NM_005045.4(RELN):c.4755T>C (p.His1585=) rs797045914
NM_005045.4(RELN):c.5188G>C (p.Val1730Leu) rs1554379957
NM_005045.4(RELN):c.541G>C (p.Gly181Arg) rs1342417375
NM_005045.4(RELN):c.6811A>G (p.Asn2271Asp) rs2117129487
NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys) rs587780438

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.