ClinVar Miner

List of variants in gene GNAO1 reported as uncertain significance for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 114
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020988.3(GNAO1):c.433C>T (p.Arg145Trp) rs757388426 0.00005
NM_020988.3(GNAO1):c.723+7070C>T rs756529307 0.00004
NM_020988.3(GNAO1):c.723G>A (p.Thr241=) rs763053362 0.00003
NM_020988.3(GNAO1):c.1015G>A (p.Val339Ile) rs2037954591 0.00001
NM_020988.3(GNAO1):c.187G>A (p.Gly63Arg) rs940833242 0.00001
NM_020988.3(GNAO1):c.284A>G (p.Tyr95Cys) rs1341492901 0.00001
NM_020988.3(GNAO1):c.303+4G>A rs1337378182 0.00001
NM_020988.3(GNAO1):c.303+6C>A rs1555504237 0.00001
NM_020988.3(GNAO1):c.318G>C (p.Met106Ile) rs978834925 0.00001
NM_020988.3(GNAO1):c.412C>G (p.Gln138Glu) rs759081912 0.00001
NM_020988.3(GNAO1):c.413A>G (p.Gln138Arg) rs1245351159 0.00001
NM_020988.3(GNAO1):c.428G>A (p.Arg143Gln) rs777414554 0.00001
NM_020988.3(GNAO1):c.465-3C>T rs1596871341 0.00001
NM_020988.3(GNAO1):c.488T>C (p.Ile163Thr) rs760544764 0.00001
NM_020988.3(GNAO1):c.723+4106A>G rs1437835350 0.00001
NM_020988.3(GNAO1):c.746T>C (p.Met249Thr) rs1357923280 0.00001
NM_020988.3(GNAO1):c.884A>G (p.Asn295Ser) rs371362351 0.00001
NC_000016.9:g.(?_56226148)_(56310004_?)dup
NM_020988.3(GNAO1):c.1009G>A (p.Asp337Asn)
NM_020988.3(GNAO1):c.1012G>A (p.Ala338Thr)
NM_020988.3(GNAO1):c.1021G>A (p.Asp341Asn)
NM_020988.3(GNAO1):c.1045C>T (p.Arg349Trp) rs2143705059
NM_020988.3(GNAO1):c.1046G>A (p.Arg349Gln)
NM_020988.3(GNAO1):c.116T>C (p.Leu39Pro) rs1555499769
NM_020988.3(GNAO1):c.117C>T (p.Leu39=) rs747565910
NM_020988.3(GNAO1):c.121G>A (p.Ala41Thr) rs2036187623
NM_020988.3(GNAO1):c.145A>C (p.Ile49Leu) rs763223472
NM_020988.3(GNAO1):c.146T>C (p.Ile49Thr)
NM_020988.3(GNAO1):c.151A>G (p.Lys51Glu) rs2143272241
NM_020988.3(GNAO1):c.152A>G (p.Lys51Arg)
NM_020988.3(GNAO1):c.196G>A (p.Val66Met)
NM_020988.3(GNAO1):c.229A>G (p.Thr77Ala)
NM_020988.3(GNAO1):c.22GAG[1] (p.Glu9del)
NM_020988.3(GNAO1):c.232A>C (p.Ile78Leu) rs1263683170
NM_020988.3(GNAO1):c.259G>T (p.Ala87Ser)
NM_020988.3(GNAO1):c.262A>G (p.Met88Val) rs1555504233
NM_020988.3(GNAO1):c.262A>T (p.Met88Leu)
NM_020988.3(GNAO1):c.286G>C (p.Gly96Arg)
NM_020988.3(GNAO1):c.287G>C (p.Gly96Ala)
NM_020988.3(GNAO1):c.290A>G (p.Asp97Gly) rs778669032
NM_020988.3(GNAO1):c.303+3A>G
NM_020988.3(GNAO1):c.303+4852A>G rs2143533711
NM_020988.3(GNAO1):c.303+6C>T rs1555504237
NM_020988.3(GNAO1):c.304-19275T>C rs1475730892
NM_020988.3(GNAO1):c.320T>C (p.Val107Ala)
NM_020988.3(GNAO1):c.331G>T (p.Val111Leu)
NM_020988.3(GNAO1):c.354G>C (p.Glu118Asp) rs1567485534
NM_020988.3(GNAO1):c.369G>T (p.Glu123Asp)
NM_020988.3(GNAO1):c.380C>A (p.Ala127Asp)
NM_020988.3(GNAO1):c.388C>T (p.Arg130Trp) rs539662922
NM_020988.3(GNAO1):c.397G>C (p.Gly133Arg) rs374115337
NM_020988.3(GNAO1):c.415G>A (p.Glu139Lys)
NM_020988.3(GNAO1):c.425A>C (p.Asn142Thr)
NM_020988.3(GNAO1):c.428G>C (p.Arg143Pro)
NM_020988.3(GNAO1):c.428G>T (p.Arg143Leu) rs777414554
NM_020988.3(GNAO1):c.434G>A (p.Arg145Gln)
NM_020988.3(GNAO1):c.464+5G>A rs2143647379
NM_020988.3(GNAO1):c.465-11G>T
NM_020988.3(GNAO1):c.474C>G (p.Asp158Glu)
NM_020988.3(GNAO1):c.479T>C (p.Leu160Pro) rs2143660444
NM_020988.3(GNAO1):c.484C>G (p.Arg162Gly)
NM_020988.3(GNAO1):c.485G>A (p.Arg162Gln)
NM_020988.3(GNAO1):c.485G>T (p.Arg162Leu)
NM_020988.3(GNAO1):c.497C>T (p.Ala166Val)
NM_020988.3(GNAO1):c.499G>C (p.Asp167His) rs2037724346
NM_020988.3(GNAO1):c.501C>A (p.Asp167Glu)
NM_020988.3(GNAO1):c.512C>G (p.Thr171Ser)
NM_020988.3(GNAO1):c.520G>A (p.Asp174Asn) rs1567488305
NM_020988.3(GNAO1):c.553A>G (p.Ile185Val) rs2143660738
NM_020988.3(GNAO1):c.556G>A (p.Val186Ile)
NM_020988.3(GNAO1):c.563C>T (p.Thr188Ile)
NM_020988.3(GNAO1):c.56T>A (p.Ile19Asn)
NM_020988.3(GNAO1):c.593+6G>A rs367545187
NM_020988.3(GNAO1):c.614A>T (p.Gln205Leu)
NM_020988.3(GNAO1):c.622G>C (p.Glu208Gln)
NM_020988.3(GNAO1):c.636G>T (p.Trp212Cys)
NM_020988.3(GNAO1):c.655G>A (p.Val219Ile) rs2037744218
NM_020988.3(GNAO1):c.659C>T (p.Thr220Met)
NM_020988.3(GNAO1):c.662C>T (p.Ala221Val)
NM_020988.3(GNAO1):c.674G>A (p.Cys225Tyr)
NM_020988.3(GNAO1):c.675T>G (p.Cys225Trp)
NM_020988.3(GNAO1):c.67C>T (p.Leu23Phe)
NM_020988.3(GNAO1):c.687C>A (p.Ser229Arg) rs546569747
NM_020988.3(GNAO1):c.688G>A (p.Gly230Ser)
NM_020988.3(GNAO1):c.694G>A (p.Asp232Asn)
NM_020988.3(GNAO1):c.715G>A (p.Glu239Lys)
NM_020988.3(GNAO1):c.723+6926G>C rs539641021
NM_020988.3(GNAO1):c.723+9C>T
NM_020988.3(GNAO1):c.727C>T (p.Arg243Cys)
NM_020988.3(GNAO1):c.728G>A (p.Arg243His)
NM_020988.3(GNAO1):c.728G>T (p.Arg243Leu)
NM_020988.3(GNAO1):c.764G>A (p.Cys255Tyr)
NM_020988.3(GNAO1):c.76G>A (p.Asp26Asn) rs2143270433
NM_020988.3(GNAO1):c.781A>G (p.Ile261Val)
NM_020988.3(GNAO1):c.791C>T (p.Ser264Phe)
NM_020988.3(GNAO1):c.809A>C (p.Asn270Thr) rs1596881854
NM_020988.3(GNAO1):c.811A>G (p.Lys271Glu) rs1555508311
NM_020988.3(GNAO1):c.842A>C (p.Lys281Thr)
NM_020988.3(GNAO1):c.856A>C (p.Ile286Leu)
NM_020988.3(GNAO1):c.856A>T (p.Ile286Phe) rs1386785579
NM_020988.3(GNAO1):c.85A>G (p.Ser29Gly)
NM_020988.3(GNAO1):c.863T>C (p.Phe288Ser) rs2143699786
NM_020988.3(GNAO1):c.870A>T (p.Glu290Asp)
NM_020988.3(GNAO1):c.877+6T>C
NM_020988.3(GNAO1):c.894A>T (p.Glu298Asp) rs2037953814
NM_020988.3(GNAO1):c.89C>T (p.Ala30Val) rs2143270471
NM_020988.3(GNAO1):c.8G>A (p.Cys3Tyr)
NM_020988.3(GNAO1):c.911T>A (p.Ile304Asn)
NM_020988.3(GNAO1):c.938G>A (p.Arg313His) rs2143704815
NM_020988.3(GNAO1):c.944C>T (p.Pro315Leu)
NM_020988.3(GNAO1):c.957A>G (p.Ile319Met)
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly) rs2037954227
NM_020988.3(GNAO1):c.990_992del (p.Asn331del)
NM_020988.3(GNAO1):c.991_1002del (p.Asn331_Val334del)

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.