ClinVar Miner

List of variants in gene CHRNA2 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000742.4(CHRNA2):c.987C>T (p.Gly329=) rs147530139 0.00055
NM_000742.4(CHRNA2):c.1464G>A (p.Ser488=) rs796052305 0.00005
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp) rs376970816 0.00005
NM_000742.4(CHRNA2):c.416T>C (p.Met139Thr) rs770447351 0.00005
NM_000742.4(CHRNA2):c.1064G>A (p.Arg355His) rs368791756 0.00004
NM_000742.4(CHRNA2):c.1073G>T (p.Ser358Ile) rs74341575 0.00004
NM_000742.4(CHRNA2):c.1123C>G (p.Pro375Ala) rs746613509 0.00004
NM_000742.4(CHRNA2):c.289G>A (p.Asp97Asn) rs775714882 0.00004
NM_000742.4(CHRNA2):c.869C>T (p.Pro290Leu) rs767619637 0.00004
NM_000742.4(CHRNA2):c.905C>T (p.Ser302Leu) rs367914235 0.00004
NM_000742.4(CHRNA2):c.121C>T (p.Leu41Phe) rs796052307 0.00003
NM_000742.4(CHRNA2):c.697A>C (p.Ile233Leu) rs780491416 0.00003
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser) rs770305730 0.00002
NM_000742.4(CHRNA2):c.1165C>T (p.Leu389Phe) rs796052303 0.00002
NM_000742.4(CHRNA2):c.1531G>A (p.Val511Ile) rs796052306 0.00002
NM_000742.4(CHRNA2):c.259C>T (p.Arg87Cys) rs778191765 0.00002
NM_000742.4(CHRNA2):c.294+5G>A rs774398407 0.00002
NM_000742.4(CHRNA2):c.432C>A (p.Asp144Glu) rs796052297 0.00002
NM_000742.4(CHRNA2):c.73G>C (p.Gly25Arg) rs1064796550 0.00002
NM_000742.4(CHRNA2):c.1021C>G (p.Leu341Val) rs750301958 0.00001
NM_000742.4(CHRNA2):c.1030G>A (p.Val344Ile) rs567044128 0.00001
NM_000742.4(CHRNA2):c.1076C>T (p.Thr359Ile) rs888935641 0.00001
NM_000742.4(CHRNA2):c.1145G>A (p.Arg382Gln) rs888244000 0.00001
NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His) rs761054762 0.00001
NM_000742.4(CHRNA2):c.1218C>G (p.Ser406Arg) rs749199596 0.00001
NM_000742.4(CHRNA2):c.1373G>C (p.Gly458Ala) rs751242542 0.00001
NM_000742.4(CHRNA2):c.1552G>A (p.Gly518Ser) rs755631456 0.00001
NM_000742.4(CHRNA2):c.212A>G (p.Asn71Ser) rs79290097 0.00001
NM_000742.4(CHRNA2):c.307C>A (p.Gln103Lys) rs796052296 0.00001
NM_000742.4(CHRNA2):c.320C>G (p.Thr107Ser) rs1320480004 0.00001
NM_000742.4(CHRNA2):c.322A>G (p.Asn108Asp) rs913563840 0.00001
NM_000742.4(CHRNA2):c.402G>C (p.Arg134Ser) rs773956983 0.00001
NM_000742.4(CHRNA2):c.431A>G (p.Asp144Gly) rs748032811 0.00001
NM_000742.4(CHRNA2):c.433A>G (p.Ile145Val) rs1064795580 0.00001
NM_000742.4(CHRNA2):c.503C>T (p.Thr168Met) rs766076722 0.00001
NM_000742.4(CHRNA2):c.577G>A (p.Asp193Asn) rs373358886 0.00001
NM_000742.4(CHRNA2):c.595A>G (p.Met199Val) rs1064793314 0.00001
NM_000742.4(CHRNA2):c.835A>G (p.Ile279Val) rs1812595253 0.00001
NM_000742.4(CHRNA2):c.-27C>A rs1029528073
NM_000742.4(CHRNA2):c.1039G>A (p.Val347Ile) rs1057524196
NM_000742.4(CHRNA2):c.1055T>C (p.Val352Ala) rs1554514453
NM_000742.4(CHRNA2):c.1084A>T (p.Met362Leu) rs796052301
NM_000742.4(CHRNA2):c.1118G>C (p.Cys373Ser) rs768424025
NM_000742.4(CHRNA2):c.1148C>T (p.Pro383Leu) rs796052302
NM_000742.4(CHRNA2):c.121del (p.Leu41fs) rs796052310
NM_000742.4(CHRNA2):c.1262A>G (p.Asp421Gly) rs1064795452
NM_000742.4(CHRNA2):c.137C>T (p.Pro46Leu) rs748345482
NM_000742.4(CHRNA2):c.1385T>C (p.Leu462Pro) rs377612702
NM_000742.4(CHRNA2):c.1393del (p.His465fs) rs1394301488
NM_000742.4(CHRNA2):c.1426A>C (p.Ile476Leu) rs796052304
NM_000742.4(CHRNA2):c.1437C>G (p.His479Gln) rs374849310
NM_000742.4(CHRNA2):c.1444T>C (p.Ser482Pro) rs2132650030
NM_000742.4(CHRNA2):c.1479_1482dup (p.Tyr495fs)
NM_000742.4(CHRNA2):c.1483T>C (p.Tyr495His)
NM_000742.4(CHRNA2):c.1498_1500del (p.Ile500del) rs760166123
NM_000742.4(CHRNA2):c.149C>T (p.Pro50Leu) rs146763552
NM_000742.4(CHRNA2):c.1531G>C (p.Val511Leu) rs796052306
NM_000742.4(CHRNA2):c.1568C>T (p.Pro523Leu) rs145238683
NM_000742.4(CHRNA2):c.215G>A (p.Arg72His) rs201922955
NM_000742.4(CHRNA2):c.215G>T (p.Arg72Leu) rs201922955
NM_000742.4(CHRNA2):c.221C>T (p.Ala74Val) rs759595350
NM_000742.4(CHRNA2):c.286A>T (p.Ile96Phe) rs149615415
NM_000742.4(CHRNA2):c.294+1G>A rs1064795899
NM_000742.4(CHRNA2):c.305A>G (p.Asn102Ser) rs2132665924
NM_000742.4(CHRNA2):c.361C>A (p.Arg121Ser) rs746274421
NM_000742.4(CHRNA2):c.411del (p.Glu138fs)
NM_000742.4(CHRNA2):c.444CAA[1] (p.Asn150del) rs758217117
NM_000742.4(CHRNA2):c.450-2A>C rs777966258
NM_000742.4(CHRNA2):c.529G>C (p.Ala177Pro) rs796052298
NM_000742.4(CHRNA2):c.557_558delinsCG (p.Asp186Ala) rs796052308
NM_000742.4(CHRNA2):c.572_573delinsTT (p.Pro191Leu) rs2132654200
NM_000742.4(CHRNA2):c.590G>T (p.Cys197Phe) rs796052299
NM_000742.4(CHRNA2):c.634G>A (p.Asp212Asn) rs760660239
NM_000742.4(CHRNA2):c.636C>A (p.Asp212Glu) rs775471233
NM_000742.4(CHRNA2):c.647T>C (p.Met216Thr)
NM_000742.4(CHRNA2):c.676T>A (p.Trp226Arg)
NM_000742.4(CHRNA2):c.685G>A (p.Gly229Ser)
NM_000742.4(CHRNA2):c.725G>A (p.Ser242Asn) rs796052300
NM_000742.4(CHRNA2):c.73+5G>A
NM_000742.4(CHRNA2):c.824C>T (p.Pro275Leu)
NM_000742.4(CHRNA2):c.884AGA[1] (p.Lys296del) rs796052309
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr) rs760884840
NM_000742.4(CHRNA2):c.970G>A (p.Val324Ile)
NM_000742.4(CHRNA2):c.971T>A (p.Val324Asp)
NM_000742.4(CHRNA2):c.993C>G (p.Tyr331Ter) rs143360318

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.