ClinVar Miner

List of variants in gene GNAO1 reported as likely benign for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 164
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020988.3(GNAO1):c.593+12A>C rs370265621 0.00036
NM_020988.3(GNAO1):c.474C>T (p.Asp158=) rs144771965 0.00032
NM_020988.3(GNAO1):c.27G>A (p.Glu9=) rs139334934 0.00031
NM_020988.3(GNAO1):c.828C>T (p.Gly276=) rs199741926 0.00028
NM_020988.3(GNAO1):c.195C>T (p.Asp65=) rs368113345 0.00013
NM_020988.3(GNAO1):c.660G>A (p.Thr220=) rs189380751 0.00012
NM_020988.3(GNAO1):c.75G>A (p.Glu25=) rs182812404 0.00007
NM_020988.3(GNAO1):c.118+8C>T rs372787855 0.00006
NM_020988.3(GNAO1):c.186C>T (p.Ser62=) rs200201305 0.00006
NM_020988.3(GNAO1):c.389G>A (p.Arg130Gln) rs200127285 0.00006
NM_020988.3(GNAO1):c.606C>T (p.Val202=) rs150641952 0.00006
NM_020988.3(GNAO1):c.723+11T>C rs1436583224 0.00006
NM_020988.3(GNAO1):c.1020C>T (p.Thr340=) rs765996386 0.00004
NM_020988.3(GNAO1):c.279C>T (p.Ile93=) rs749909537 0.00004
NM_020988.3(GNAO1):c.386T>C (p.Met129Thr) rs200539902 0.00004
NM_020988.3(GNAO1):c.464+19G>A rs373227432 0.00004
NM_020988.3(GNAO1):c.870A>G (p.Glu290=) rs145546431 0.00004
NM_020988.3(GNAO1):c.1008C>T (p.Phe336=) rs763429802 0.00003
NM_020988.3(GNAO1):c.309C>T (p.Asp103=) rs372103298 0.00003
NM_020988.3(GNAO1):c.351C>T (p.Thr117=) rs770385484 0.00003
NM_020988.3(GNAO1):c.498C>T (p.Ala166=) rs774947928 0.00003
NM_020988.3(GNAO1):c.897C>T (p.Asp299=) rs148878451 0.00003
NM_020988.3(GNAO1):c.987G>A (p.Thr329=) rs201638233 0.00003
NM_020988.3(GNAO1):c.1014C>T (p.Ala338=) rs369818930 0.00002
NM_020988.3(GNAO1):c.21A>G (p.Ala7=) rs1396370689 0.00002
NM_020988.3(GNAO1):c.252C>T (p.Ile84=) rs756947463 0.00002
NM_020988.3(GNAO1):c.393C>G (p.Leu131=) rs766107260 0.00002
NM_020988.3(GNAO1):c.417G>A (p.Glu139=) rs369305192 0.00002
NM_020988.3(GNAO1):c.543A>G (p.Lys181=) rs761449625 0.00002
NM_020988.3(GNAO1):c.724-20C>T rs774930699 0.00002
NM_020988.3(GNAO1):c.724-4G>A rs373051247 0.00002
NM_020988.3(GNAO1):c.744C>T (p.Leu248=) rs377336410 0.00002
NM_020988.3(GNAO1):c.825T>C (p.Phe275=) rs778172059 0.00002
NM_020988.3(GNAO1):c.903C>T (p.Ala301=) rs543764725 0.00002
NM_020988.3(GNAO1):c.936C>T (p.Asn312=) rs200323041 0.00002
NM_020988.3(GNAO1):c.1011C>T (p.Asp337=) rs375683292 0.00001
NM_020988.3(GNAO1):c.119-17T>C rs759192540 0.00001
NM_020988.3(GNAO1):c.119-5A>G rs775212759 0.00001
NM_020988.3(GNAO1):c.132A>G (p.Ser44=) rs1461948245 0.00001
NM_020988.3(GNAO1):c.161+12T>G rs761912841 0.00001
NM_020988.3(GNAO1):c.161+13G>T rs767965127 0.00001
NM_020988.3(GNAO1):c.161+9C>T rs751608846 0.00001
NM_020988.3(GNAO1):c.257G>A (p.Arg86Gln) rs1301302019 0.00001
NM_020988.3(GNAO1):c.267C>T (p.Asp89=) rs201728736 0.00001
NM_020988.3(GNAO1):c.333G>A (p.Val111=) rs61758988 0.00001
NM_020988.3(GNAO1):c.495C>T (p.Ala165=) rs745503611 0.00001
NM_020988.3(GNAO1):c.549T>G (p.Thr183=) rs767417261 0.00001
NM_020988.3(GNAO1):c.54G>A (p.Ala18=) rs1288429932 0.00001
NM_020988.3(GNAO1):c.593+17C>A rs778086425 0.00001
NM_020988.3(GNAO1):c.616C>A (p.Arg206=) rs2037743862 0.00001
NM_020988.3(GNAO1):c.66C>T (p.Asn22=) rs1215228286 0.00001
NM_020988.3(GNAO1):c.678C>T (p.Val226=) rs760476691 0.00001
NM_020988.3(GNAO1):c.681G>A (p.Ala227=) rs770769352 0.00001
NM_020988.3(GNAO1):c.714C>T (p.Asp238=) rs752775959 0.00001
NM_020988.3(GNAO1):c.724-5C>T rs529454065 0.00001
NM_020988.3(GNAO1):c.735C>T (p.His245=) rs201930720 0.00001
NM_020988.3(GNAO1):c.753C>T (p.Phe251=) rs755484788 0.00001
NM_020988.3(GNAO1):c.783C>T (p.Ile261=) rs752997228 0.00001
NM_020988.3(GNAO1):c.877+20G>A rs1222479179 0.00001
NM_020988.3(GNAO1):c.878-10C>G rs374412223 0.00001
NM_020988.3(GNAO1):c.102G>T (p.Val34=)
NM_020988.3(GNAO1):c.1044C>G (p.Leu348=)
NM_020988.3(GNAO1):c.1053C>T (p.Cys351=)
NM_020988.3(GNAO1):c.111C>T (p.Leu37=)
NM_020988.3(GNAO1):c.118+20C>A
NM_020988.3(GNAO1):c.118+20C>T
NM_020988.3(GNAO1):c.118+3A>G
NM_020988.3(GNAO1):c.118+9C>T
NM_020988.3(GNAO1):c.119-12G>A rs2143271938
NM_020988.3(GNAO1):c.119-14C>G rs769634112
NM_020988.3(GNAO1):c.119-18C>T
NM_020988.3(GNAO1):c.129A>G (p.Glu43=) rs2036187726
NM_020988.3(GNAO1):c.135A>G (p.Gly45=)
NM_020988.3(GNAO1):c.153G>A (p.Lys51=) rs1555499801
NM_020988.3(GNAO1):c.161+14G>T
NM_020988.3(GNAO1):c.161+16A>G
NM_020988.3(GNAO1):c.161+8C>G rs145872570
NM_020988.3(GNAO1):c.168C>T (p.Ile56=)
NM_020988.3(GNAO1):c.174A>G (p.Glu58=) rs1165660073
NM_020988.3(GNAO1):c.201A>G (p.Lys67=) rs2143520908
NM_020988.3(GNAO1):c.204G>A (p.Gln68=) rs1452910276
NM_020988.3(GNAO1):c.24G>A (p.Glu8=) rs2143270247
NM_020988.3(GNAO1):c.261C>T (p.Ala87=) rs2143521053
NM_020988.3(GNAO1):c.282A>G (p.Glu94=) rs2037058709
NM_020988.3(GNAO1):c.303+13G>A
NM_020988.3(GNAO1):c.303+7C>A
NM_020988.3(GNAO1):c.303+9C>T
NM_020988.3(GNAO1):c.304-7C>T rs778867051
NM_020988.3(GNAO1):c.319G>C (p.Val107Leu)
NM_020988.3(GNAO1):c.321G>T (p.Val107=)
NM_020988.3(GNAO1):c.330G>C (p.Val110=) rs1596867599
NM_020988.3(GNAO1):c.33C>T (p.Ala11=) rs1243993397
NM_020988.3(GNAO1):c.351C>G (p.Thr117=) rs770385484
NM_020988.3(GNAO1):c.357C>A (p.Pro119=)
NM_020988.3(GNAO1):c.36C>T (p.Ala12=) rs1596787365
NM_020988.3(GNAO1):c.372G>C (p.Leu124=)
NM_020988.3(GNAO1):c.387G>A (p.Met129Ile)
NM_020988.3(GNAO1):c.390G>A (p.Arg130=)
NM_020988.3(GNAO1):c.427C>T (p.Arg143Trp) rs2143647269
NM_020988.3(GNAO1):c.464+12A>G
NM_020988.3(GNAO1):c.464+14C>T rs745893559
NM_020988.3(GNAO1):c.464+14dup
NM_020988.3(GNAO1):c.464+15G>A rs770008390
NM_020988.3(GNAO1):c.464+7G>A rs2037660949
NM_020988.3(GNAO1):c.465-4T>C rs755412219
NM_020988.3(GNAO1):c.469C>T (p.Leu157=)
NM_020988.3(GNAO1):c.480G>A (p.Leu160=)
NM_020988.3(GNAO1):c.492G>C (p.Gly164=)
NM_020988.3(GNAO1):c.498C>G (p.Ala166=)
NM_020988.3(GNAO1):c.525C>T (p.Ile175=)
NM_020988.3(GNAO1):c.534C>T (p.Thr178=)
NM_020988.3(GNAO1):c.537G>A (p.Arg179=)
NM_020988.3(GNAO1):c.540C>A (p.Val180=) rs2143660697
NM_020988.3(GNAO1):c.555C>A (p.Ile185=)
NM_020988.3(GNAO1):c.570C>T (p.Phe190=)
NM_020988.3(GNAO1):c.585C>T (p.Leu195=) rs1289428537
NM_020988.3(GNAO1):c.593+10A>G rs1596871500
NM_020988.3(GNAO1):c.593+14A>G rs2143660872
NM_020988.3(GNAO1):c.593+16G>A
NM_020988.3(GNAO1):c.593+19C>A
NM_020988.3(GNAO1):c.593+9C>T
NM_020988.3(GNAO1):c.594-10C>T
NM_020988.3(GNAO1):c.594-15C>A rs747946596
NM_020988.3(GNAO1):c.594-20C>T
NM_020988.3(GNAO1):c.594-6C>T
NM_020988.3(GNAO1):c.603C>T (p.Asp201=) rs1385035890
NM_020988.3(GNAO1):c.612C>G (p.Gly204=) rs768258979
NM_020988.3(GNAO1):c.621T>G (p.Ser207=) rs2143664918
NM_020988.3(GNAO1):c.639C>A (p.Ile213=)
NM_020988.3(GNAO1):c.648C>T (p.Phe216=)
NM_020988.3(GNAO1):c.681G>T (p.Ala227=)
NM_020988.3(GNAO1):c.720C>T (p.Thr240=)
NM_020988.3(GNAO1):c.723+10C>T
NM_020988.3(GNAO1):c.723+14G>C
NM_020988.3(GNAO1):c.723+14del
NM_020988.3(GNAO1):c.723+15C>T
NM_020988.3(GNAO1):c.723+20C>T
NM_020988.3(GNAO1):c.723+9C>T
NM_020988.3(GNAO1):c.724-10G>A
NM_020988.3(GNAO1):c.724-16C>T
NM_020988.3(GNAO1):c.754G>A (p.Asp252Asn) rs2037920339
NM_020988.3(GNAO1):c.756C>T (p.Asp252=)
NM_020988.3(GNAO1):c.759C>T (p.Ser253=)
NM_020988.3(GNAO1):c.768C>T (p.Asn256=)
NM_020988.3(GNAO1):c.768CAA[1] (p.Asn257del) rs1567496374
NM_020988.3(GNAO1):c.789C>G (p.Thr263=) rs1265902011
NM_020988.3(GNAO1):c.793A>G (p.Ile265Val) rs2037920534
NM_020988.3(GNAO1):c.804C>T (p.Phe268=)
NM_020988.3(GNAO1):c.820C>A (p.Leu274Ile)
NM_020988.3(GNAO1):c.843G>A (p.Lys281=)
NM_020988.3(GNAO1):c.84C>T (p.Ile28=)
NM_020988.3(GNAO1):c.877+19T>C
NM_020988.3(GNAO1):c.877+7G>C
NM_020988.3(GNAO1):c.877+7G>T rs1596881898
NM_020988.3(GNAO1):c.878-13T>C
NM_020988.3(GNAO1):c.878-18T>C
NM_020988.3(GNAO1):c.878-7G>C rs1370200465
NM_020988.3(GNAO1):c.888C>G (p.Thr296=)
NM_020988.3(GNAO1):c.909C>T (p.Tyr303=) rs773032912
NM_020988.3(GNAO1):c.914A>G (p.Gln305Arg)
NM_020988.3(GNAO1):c.939C>T (p.Arg313=) rs2037954101
NM_020988.3(GNAO1):c.960T>C (p.Tyr320=)
NM_020988.3(GNAO1):c.96A>G (p.Lys32=)
NM_020988.3(GNAO1):c.9T>C (p.Cys3=)

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.