ClinVar Miner

List of variants in gene SHANK3 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.1606C>G (p.Arg536Gly) rs1043729674 0.02423
NM_001372044.2(SHANK3):c.4104C>T (p.Ser1368=) rs201793890 0.00221
NM_001372044.2(SHANK3):c.474G>T (p.Thr158=) rs530240325 0.00137
NM_001372044.2(SHANK3):c.2436C>T (p.Ala812=) rs61729465 0.00131
NM_001372044.2(SHANK3):c.3114G>C (p.Ala1038=) rs772152761 0.00113
NM_001372044.2(SHANK3):c.3559C>T (p.Leu1187=) rs376858991 0.00107
NM_001372044.2(SHANK3):c.5177C>T (p.Pro1726Leu) rs932743656 0.00099
NM_001372044.2(SHANK3):c.4410C>T (p.Thr1470=) rs376136109 0.00094
NM_001372044.2(SHANK3):c.4118G>A (p.Arg1373Lys) rs201483867 0.00081
NM_001372044.2(SHANK3):c.4223T>G (p.Val1408Gly) rs200087210 0.00064
NM_001372044.2(SHANK3):c.3257G>T (p.Gly1086Val) rs767058690 0.00061
NM_001372044.2(SHANK3):c.4569C>T (p.His1523=) rs368142005 0.00059
NM_001372044.2(SHANK3):c.3742G>A (p.Ala1248Thr) rs139686326 0.00053
NM_001372044.2(SHANK3):c.696C>T (p.Ala232=) rs201013911 0.00053
NM_001372044.2(SHANK3):c.4038C>T (p.Gly1346=) rs367676023 0.00050
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu) rs73174429 0.00046
NM_001372044.2(SHANK3):c.708C>T (p.Asn236=) rs79762996 0.00045
NM_001372044.2(SHANK3):c.3705T>C (p.Ala1235=) rs576803553 0.00033
NM_001372044.2(SHANK3):c.2820G>A (p.Ala940=) rs758217731 0.00029
NM_001372044.2(SHANK3):c.3876C>T (p.Asn1292=) rs371876840 0.00028
NM_001372044.2(SHANK3):c.1248G>A (p.Ser416=) rs372822152 0.00022
NM_001372044.2(SHANK3):c.4170C>T (p.Asn1390=) rs558643743 0.00022
NM_001372044.2(SHANK3):c.2250C>T (p.Arg750=) rs188450024 0.00021
NM_001372044.2(SHANK3):c.1398C>G (p.Pro466=) rs371565755 0.00013
NM_001372044.2(SHANK3):c.3885G>A (p.Glu1295=) rs546313986 0.00013
NM_001372044.2(SHANK3):c.966C>T (p.Asp322=) rs778488904 0.00012
NM_001372044.2(SHANK3):c.1201G>A (p.Ala401Thr) rs371238756 0.00010
NM_001372044.2(SHANK3):c.3612A>G (p.Thr1204=) rs746873311 0.00010
NM_001372044.2(SHANK3):c.2422G>A (p.Ala808Thr) rs376095125 0.00009
NM_001372044.2(SHANK3):c.2184T>C (p.Gly728=) rs747708688 0.00005
NM_001372044.2(SHANK3):c.651C>T (p.Asn217=) rs751998473 0.00005
NM_001372044.2(SHANK3):c.1513G>A (p.Gly505Ser) rs563454435 0.00004
NM_001372044.2(SHANK3):c.2745G>A (p.Pro915=) rs1453397190 0.00004
NM_001372044.2(SHANK3):c.4083A>G (p.Pro1361=) rs371543035 0.00004
NM_001372044.2(SHANK3):c.2296C>T (p.Leu766=) rs201094179 0.00003
NM_001372044.2(SHANK3):c.3309G>T (p.Val1103=) rs746196255 0.00003
NM_001372044.2(SHANK3):c.3918C>G (p.Arg1306=) rs1415046695 0.00003
NM_001372044.2(SHANK3):c.5160C>T (p.Pro1720=) rs751652089 0.00003
NM_001372044.2(SHANK3):c.3507C>A (p.Ile1169=) rs746818601 0.00002
NM_001372044.2(SHANK3):c.1251T>C (p.Asp417=) rs1377234347 0.00001
NM_001372044.2(SHANK3):c.3144C>T (p.Ser1048=) rs760688077 0.00001
NM_001372044.2(SHANK3):c.3294G>A (p.Arg1098=) rs757833825 0.00001
NM_001372044.2(SHANK3):c.3353A>C (p.Asp1118Ala) rs1064793828 0.00001
NM_001372044.2(SHANK3):c.3487C>T (p.Pro1163Ser) rs565975948 0.00001
NM_001372044.2(SHANK3):c.4006G>A (p.Gly1336Ser) rs752227380 0.00001
NM_001372044.2(SHANK3):c.4233G>A (p.Pro1411=) rs369083529 0.00001
NM_001372044.2(SHANK3):c.4377C>T (p.Thr1459=) rs1264636649 0.00001
NM_001372044.2(SHANK3):c.5079C>T (p.His1693=) rs917429108 0.00001
NM_001372044.2(SHANK3):c.609G>A (p.Thr203=) rs555588172 0.00001
NM_001372044.2(SHANK3):c.1052T>C (p.Met351Thr)
NM_001372044.2(SHANK3):c.1776G>A (p.Thr592=)
NM_001372044.2(SHANK3):c.2187C>T (p.Gly729=)
NM_001372044.2(SHANK3):c.2289A>C (p.Thr763=)
NM_001372044.2(SHANK3):c.2310C>T (p.Ser770=)
NM_001372044.2(SHANK3):c.2667G>C (p.Pro889=) rs1569114747
NM_001372044.2(SHANK3):c.2673G>C (p.Pro891=) rs1569114751
NM_001372044.2(SHANK3):c.2676G>C (p.Pro892=) rs1173390690
NM_001372044.2(SHANK3):c.2682C>A (p.Thr894=)
NM_001372044.2(SHANK3):c.2685G>C (p.Ala895=) rs1569114769
NM_001372044.2(SHANK3):c.2688G>C (p.Pro896=)
NM_001372044.2(SHANK3):c.2703G>A (p.Ala901=)
NM_001372044.2(SHANK3):c.2838C>T (p.Tyr946=)
NM_001372044.2(SHANK3):c.2847C>T (p.Gly949=)
NM_001372044.2(SHANK3):c.3012C>T (p.Ser1004=)
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
NM_001372044.2(SHANK3):c.318C>G (p.Pro106=)
NM_001372044.2(SHANK3):c.3195C>A (p.Arg1065=) rs1569115121
NM_001372044.2(SHANK3):c.3304A>G (p.Thr1102Ala)
NM_001372044.2(SHANK3):c.330C>T (p.Ala110=)
NM_001372044.2(SHANK3):c.3360A>G (p.Pro1120=)
NM_001372044.2(SHANK3):c.3381C>T (p.Ser1127=)
NM_001372044.2(SHANK3):c.3387C>T (p.Asp1129=)
NM_001372044.2(SHANK3):c.3690C>T (p.Ser1230=)
NM_001372044.2(SHANK3):c.3766C>A (p.Pro1256Thr) rs200188413
NM_001372044.2(SHANK3):c.3832C>T (p.Leu1278=)
NM_001372044.2(SHANK3):c.3867C>T (p.Ala1289=)
NM_001372044.2(SHANK3):c.3899G>A (p.Gly1300Glu)
NM_001372044.2(SHANK3):c.3912G>A (p.Glu1304=) rs1264964864
NM_001372044.2(SHANK3):c.3941C>T (p.Pro1314Leu) rs753314270
NM_001372044.2(SHANK3):c.4019A>T (p.Asp1340Val) rs374885308
NM_001372044.2(SHANK3):c.4020C>T (p.Asp1340=)
NM_001372044.2(SHANK3):c.4077C>T (p.Asn1359=)
NM_001372044.2(SHANK3):c.4088C>T (p.Ala1363Val)
NM_001372044.2(SHANK3):c.4269C>T (p.Ala1423=)
NM_001372044.2(SHANK3):c.4284C>T (p.Ala1428=)
NM_001372044.2(SHANK3):c.432T>C (p.Asp144=)
NM_001372044.2(SHANK3):c.4401C>G (p.Leu1467=) rs906873431
NM_001372044.2(SHANK3):c.4428C>T (p.Asp1476=)
NM_001372044.2(SHANK3):c.4656C>T (p.Pro1552=)
NM_001372044.2(SHANK3):c.4662G>A (p.Glu1554=)
NM_001372044.2(SHANK3):c.4902C>A (p.Ala1634=)
NM_001372044.2(SHANK3):c.4983G>C (p.Arg1661=)
NM_001372044.2(SHANK3):c.5184C>T (p.Ala1728=)
NM_001372044.2(SHANK3):c.5188G>A (p.Gly1730Ser)
NM_001372044.2(SHANK3):c.5346C>T (p.Phe1782=)
NM_001372044.2(SHANK3):c.5400C>G (p.Leu1800=)
NM_001372044.2(SHANK3):c.870C>T (p.Arg290=)

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.