ClinVar Miner

List of variants in gene SHANK2 studied for Autism spectrum disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.*4377A>T rs513996 0.96749
NM_012309.5(SHANK2):c.-36A>G rs3020047 0.60032
NM_012309.5(SHANK2):c.385G>A (p.Val129Met) rs73521173 0.05277
NM_012309.5(SHANK2):c.*4102C>G rs61885874 0.03443
NM_012309.5(SHANK2):c.336C>T (p.Asp112=) rs76014490 0.03111
NM_012309.5(SHANK2):c.520C>T (p.Arg174Cys) rs7926203 0.02486
NM_012309.5(SHANK2):c.483+14G>A rs75938961 0.02166
NM_012309.5(SHANK2):c.*3245T>C rs78378706 0.01218
NM_012309.5(SHANK2):c.207+15C>T rs77851214 0.00908
NM_012309.5(SHANK2):c.483+13C>T rs117706585 0.00882
NM_012309.5(SHANK2):c.*1597T>G rs2154625 0.00746
NM_012309.5(SHANK2):c.168G>A (p.Thr56=) rs150944234 0.00325
NM_012309.5(SHANK2):c.396C>A (p.Gly132=) rs148065633 0.00290
NM_012309.5(SHANK2):c.51C>T (p.Ser17=) rs376267466 0.00265
NM_012309.5(SHANK2):c.256C>A (p.Arg86=) rs377135249 0.00051
NM_012309.5(SHANK2):c.625G>A (p.Asp209Asn) rs183556625 0.00034
NM_012309.5(SHANK2):c.136G>A (p.Gly46Ser) rs201642016 0.00031
NM_012309.5(SHANK2):c.900C>T (p.His300=) rs529058522 0.00029
NM_012309.5(SHANK2):c.*3475C>G rs568643386 0.00028
NM_012309.5(SHANK2):c.771A>G (p.Pro257=) rs200821952 0.00019
NM_012309.5(SHANK2):c.*585C>T rs568990616 0.00016
NM_012309.5(SHANK2):c.*1545T>G rs371429377 0.00014
NM_012309.5(SHANK2):c.332G>A (p.Arg111His) rs368652424 0.00012
NM_012309.5(SHANK2):c.*3947C>G rs147625536 0.00011
NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu) rs782210973 0.00010
NM_012309.5(SHANK2):c.*591C>A rs879971097 0.00009
NM_012309.5(SHANK2):c.1793G>A (p.Arg598His) rs568385491 0.00006
NM_012309.5(SHANK2):c.576C>T (p.His192=) rs561132233 0.00006
NM_012309.5(SHANK2):c.191A>G (p.His64Arg) rs200995537 0.00003
NM_012309.5(SHANK2):c.397G>T (p.Val133Phe) rs1463147374 0.00003
NM_012309.5(SHANK2):c.722C>T (p.Ala241Val) rs749039621 0.00003
NM_012309.5(SHANK2):c.*3246G>A rs1357516309 0.00002
NM_012309.5(SHANK2):c.*1022T>C rs1591470586 0.00001
NM_012309.5(SHANK2):c.744+8C>T rs529300603 0.00001
NM_012309.5(SHANK2):c.7C>T (p.Arg3Cys) rs373379917 0.00001
NM_012309.5(SHANK2):c.820G>A (p.Val274Ile) rs1555094289 0.00001
NM_012309.5(SHANK2):c.*1533dup rs575407872
NM_012309.5(SHANK2):c.*3067A>G rs1041628240
NM_012309.5(SHANK2):c.*4029A>C rs1170275107
NM_012309.5(SHANK2):c.1510G>A (p.Gly504Ser) rs1590704391
NM_012309.5(SHANK2):c.1636C>G (p.Pro546Ala) rs1590704143
NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter) rs2134275196
NM_012309.5(SHANK2):c.3172C>T (p.Gln1058Ter) rs1591489959
NM_012309.5(SHANK2):c.3382G>C (p.Glu1128Gln)
NM_012309.5(SHANK2):c.4228C>T (p.Pro1410Ser) rs1591487375
NM_012309.5(SHANK2):c.4304_4305del (p.Leu1434_Ser1435insTer) rs1565527302
NM_012309.5(SHANK2):c.4676G>A (p.Ser1559Asn) rs1591486517
NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter) rs1565526121
NM_012309.5(SHANK2):c.613G>T (p.Ala205Ser) rs189053721
NM_012309.5(SHANK2):c.745-15A>G rs1555094335
NM_012309.5(SHANK2):c.912+1134C>T rs1555093950
NM_012309.5(SHANK2):c.912+269C>T rs1555094158
NM_012309.5(SHANK2):c.912+3227G>A rs1555093479
NM_012309.5(SHANK2):c.912+3911C>G rs1209216340
NM_012309.5(SHANK2):c.912+4231G>A rs1555093271
Single allele

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.