ClinVar Miner

List of variants in gene CHRNA2 studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP
NC_000008.10:g.(?_27326852)_(27328711_?)del
NM_000742.3(CHRNA2):c.295-16_295-7dup rs776047724
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.1126C>T (p.Arg376Trp) rs1018084204
NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln) rs374512926
NM_000742.4(CHRNA2):c.1144C>T (p.Arg382Trp)
NM_000742.4(CHRNA2):c.1158C>T (p.Pro386=) rs560790452
NM_000742.4(CHRNA2):c.1176C>T (p.Pro392=) rs764346961
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.1248G>C (p.Val416=) rs370878600
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=) rs56298562
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.1378C>T (p.Leu460=) rs765948265
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.1464+7_1464+8del rs763426344
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.1500C>T (p.Ile500=) rs143223159
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg) rs1012797739
NM_000742.4(CHRNA2):c.1528A>G (p.Ile510Val)
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.4(CHRNA2):c.1531G>A (p.Val511Ile)
NM_000742.4(CHRNA2):c.1568C>T (p.Pro523Leu) rs145238683
NM_000742.4(CHRNA2):c.1569G>A (p.Pro523=) rs199993564
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.210C>T (p.Tyr70=) rs144316375
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.225C>A (p.Arg75=) rs371737919
NM_000742.4(CHRNA2):c.322A>G (p.Asn108Asp) rs913563840
NM_000742.4(CHRNA2):c.324C>T (p.Asn108=) rs544939077
NM_000742.4(CHRNA2):c.325G>A (p.Val109Ile)
NM_000742.4(CHRNA2):c.347G>T (p.Ser116Ile) rs541282922
NM_000742.4(CHRNA2):c.354C>T (p.Tyr118=) rs778279138
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847
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.45C>T (p.Ser15=) rs149934219
NM_000742.4(CHRNA2):c.485_491del (p.Lys162fs) rs1563319139
NM_000742.4(CHRNA2):c.489C>T (p.Ala163=) rs535699325
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.684C>T (p.Ser228=) rs143536618
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.710C>A (p.Thr237Lys) rs140350483
NM_000742.4(CHRNA2):c.723C>T (p.Asn241=) rs1060504822
NM_000742.4(CHRNA2):c.724A>G (p.Ser242Gly)
NM_000742.4(CHRNA2):c.729G>C (p.Lys243Asn)
NM_000742.4(CHRNA2):c.731A>G (p.Lys244Arg) rs146751925
NM_000742.4(CHRNA2):c.735C>T (p.Tyr245=) rs775595773
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000742.4(CHRNA2):c.767C>A (p.Thr256Asn)
NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=) rs56229264
NM_000742.4(CHRNA2):c.772G>A (p.Ala258Thr) rs200372256
NM_000742.4(CHRNA2):c.790C>T (p.Leu264=) rs746292157
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.836T>A (p.Ile279Asn) rs104894063
NM_000742.4(CHRNA2):c.852G>A (p.Val284=) rs1357751027
NM_000742.4(CHRNA2):c.860T>C (p.Phe287Ser) rs1060503073
NM_000742.4(CHRNA2):c.889A>T (p.Ile297Phe) rs1554514507
NM_000742.4(CHRNA2):c.906G>A (p.Ser302=)
NM_000742.4(CHRNA2):c.913C>T (p.Leu305=) rs114294066
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.966G>A (p.Ser322=) rs140118184
NM_000742.4(CHRNA2):c.984C>T (p.Ile328=) rs371858399
NM_000742.4(CHRNA2):c.985G>A (p.Gly329Ser) rs56371471
NM_000742.4(CHRNA2):c.987C>T (p.Gly329=) rs147530139

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