ClinVar Miner

List of variants studied for autism spectrum disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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_003097.6(SNRPN):c.-89T>C rs705 0.53733
NM_012309.5(SHANK2):c.*2583T>C rs55678639 0.27352
NM_022807.5(SNRPN):c.-672T>C rs7170796 0.14308
NM_022807.5(SNRPN):c.-579+5G>A rs56684653 0.13434
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_003097.6(SNRPN):c.-39G>A rs75184959 0.01903
NM_022807.5(SNRPN):c.-569C>T rs80135925 0.01706
NM_012309.5(SHANK2):c.*3245T>C rs78378706 0.01218
NM_003097.6(SNRPN):c.-378C>T rs426541 0.01033
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_003097.6(SNRPN):c.3+10A>G rs112560608 0.00515
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_022807.5(SNRPN):c.-584A>G rs58890023 0.00181
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_003097.6(SNRPN):c.183T>C (p.Arg61=) rs373215950 0.00031
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_003097.6(SNRPN):c.-274G>A rs142583293 0.00014
NM_012309.5(SHANK2):c.*1545T>G rs371429377 0.00014
NM_012309.5(SHANK2):c.332G>A (p.Arg111His) rs368652424 0.00012
NM_003097.6(SNRPN):c.-86G>A rs886051018 0.00011
NM_012309.5(SHANK2):c.*3947C>G rs147625536 0.00011
NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu) rs782210973 0.00010
NM_003097.6(SNRPN):c.-280C>T rs372295822 0.00009
NM_012309.5(SHANK2):c.*591C>A rs879971097 0.00009
NM_012309.5(SHANK2):c.576C>T (p.His192=) rs561132233 0.00006
NM_003097.6(SNRPN):c.-20G>T rs763736287 0.00005
NM_003097.6(SNRPN):c.-295+8C>G rs371808119 0.00004
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_022807.5(SNRPN):c.-636C>A rs886051013 0.00002
NM_001170629.2(CHD8):c.7258C>T (p.Arg2420Cys) rs371294659 0.00001
NM_003097.6(SNRPN):c.-110T>G rs190439178 0.00001
NM_003097.6(SNRPN):c.-386C>T rs776280755 0.00001
NM_003097.6(SNRPN):c.524C>T (p.Pro175Leu) rs886051020 0.00001
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_022807.5(SNRPN):c.-504-12T>C rs886051015 0.00001
NM_022807.5(SNRPN):c.-819C>A rs886051012 0.00001
NM_022807.5(SNRPN):c.-823T>C rs886051011 0.00001
NM_001170629.2(CHD8):c.3454G>A (p.Val1152Ile) rs1888123647
NM_003097.6(SNRPN):c.-143-6C>T rs886051017
NM_003097.6(SNRPN):c.-262A>T rs765651266
NM_003097.6(SNRPN):c.-380C>T rs886051016
NM_003097.6(SNRPN):c.421-5C>T rs886051019
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.3172C>T (p.Gln1058Ter) rs1591489959
NM_012309.5(SHANK2):c.4228C>T (p.Pro1410Ser) rs1591487375
NM_012309.5(SHANK2):c.4676G>A (p.Ser1559Asn) rs1591486517
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
NM_022807.5(SNRPN):c.-596del rs886051014
NM_022807.5(SNRPN):c.-841T>A rs886051010

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.