ClinVar Miner

List of variants in gene CHRNA2 reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
Download table as spreadsheet
HGVS dbSNP
NC_000008.10:g.(?_27326852)_(27328711_?)del
NM_000742.4(CHRNA2):c.1030G>A (p.Val344Ile) rs567044128
NM_000742.4(CHRNA2):c.1037C>A (p.Thr346Asn)
NM_000742.4(CHRNA2):c.1045G>C (p.Val349Leu) rs774279507
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser)
NM_000742.4(CHRNA2):c.1070C>T (p.Pro357Leu)
NM_000742.4(CHRNA2):c.1073G>T (p.Ser358Ile) rs74341575
NM_000742.4(CHRNA2):c.107C>T (p.Ala36Val) rs1313467019
NM_000742.4(CHRNA2):c.1099C>T (p.Arg367Trp) rs751699392
NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs) rs757376257
NM_000742.4(CHRNA2):c.1117T>C (p.Cys373Arg) rs137965290
NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln) rs374512926
NM_000742.4(CHRNA2):c.1144C>T (p.Arg382Trp)
NM_000742.4(CHRNA2):c.1180C>T (p.Arg394Cys) rs1060503072
NM_000742.4(CHRNA2):c.119C>T (p.Pro40Leu)
NM_000742.4(CHRNA2):c.121C>T (p.Leu41Phe) rs796052307
NM_000742.4(CHRNA2):c.1223T>C (p.Val408Ala) rs747909980
NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter)
NM_000742.4(CHRNA2):c.1372G>A (p.Gly458Ser)
NM_000742.4(CHRNA2):c.1378C>A (p.Leu460Met)
NM_000742.4(CHRNA2):c.1393del (p.His465fs) rs1394301488
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly) rs150254933
NM_000742.4(CHRNA2):c.1432G>A (p.Asp478Asn)
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000742.4(CHRNA2):c.1441C>T (p.Arg481Trp)
NM_000742.4(CHRNA2):c.1464G>A (p.Ser488=) rs796052305
NM_000742.4(CHRNA2):c.1465-2A>G rs1279319311
NM_000742.4(CHRNA2):c.1481A>G (p.Lys494Arg)
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg) rs1012797739
NM_000742.4(CHRNA2):c.1528A>G (p.Ile510Val)
NM_000742.4(CHRNA2):c.1531G>A (p.Val511Ile)
NM_000742.4(CHRNA2):c.1568C>T (p.Pro523Leu) rs145238683
NM_000742.4(CHRNA2):c.161C>T (p.Ser54Leu)
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser) rs144185168
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile) rs151268950
NM_000742.4(CHRNA2):c.182G>A (p.Arg61Gln) rs568479156
NM_000742.4(CHRNA2):c.196C>G (p.Leu66Val) rs1473197891
NM_000742.4(CHRNA2):c.203G>A (p.Arg68Gln) rs548268816
NM_000742.4(CHRNA2):c.214C>T (p.Arg72Cys) rs201890355
NM_000742.4(CHRNA2):c.215G>A (p.Arg72His)
NM_000742.4(CHRNA2):c.215G>C (p.Arg72Pro) rs201922955
NM_000742.4(CHRNA2):c.322A>G (p.Asn108Asp) rs913563840
NM_000742.4(CHRNA2):c.325G>A (p.Val109Ile)
NM_000742.4(CHRNA2):c.444_446CAA[1] (p.Asn150del) rs758217117
NM_000742.4(CHRNA2):c.449+3A>T rs750588205
NM_000742.4(CHRNA2):c.485_491del (p.Lys162fs) rs1563319139
NM_000742.4(CHRNA2):c.537C>G (p.Tyr179Ter)
NM_000742.4(CHRNA2):c.543C>G (p.Ser181Arg)
NM_000742.4(CHRNA2):c.593A>T (p.Lys198Met)
NM_000742.4(CHRNA2):c.670G>A (p.Asp224Asn) rs781326114
NM_000742.4(CHRNA2):c.687C>T (p.Gly229=)
NM_000742.4(CHRNA2):c.695C>A (p.Ala232Asp) rs933808461
NM_000742.4(CHRNA2):c.701T>C (p.Val234Ala) rs768590131
NM_000742.4(CHRNA2):c.724A>G (p.Ser242Gly)
NM_000742.4(CHRNA2):c.729G>C (p.Lys243Asn)
NM_000742.4(CHRNA2):c.767C>A (p.Thr256Asn)
NM_000742.4(CHRNA2):c.772G>A (p.Ala258Thr) rs200372256
NM_000742.4(CHRNA2):c.799T>A (p.Phe267Ile) rs1554514530
NM_000742.4(CHRNA2):c.810C>G (p.Ile270Met) rs892421066
NM_000742.4(CHRNA2):c.860T>C (p.Phe287Ser) rs1060503073
NM_000742.4(CHRNA2):c.906G>A (p.Ser302=)
NM_000742.4(CHRNA2):c.91C>T (p.Arg31Cys)
NM_000742.4(CHRNA2):c.922A>C (p.Thr308Pro)
NM_000742.4(CHRNA2):c.929T>G (p.Phe310Cys) rs1563318247
NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr) rs760884840
NM_000742.4(CHRNA2):c.985G>A (p.Gly329Ser) rs56371471

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.