ClinVar Miner

List of variants studied for autism spectrum disorder due to AUTS2 deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 128
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly) rs149961458 0.00140
NM_015570.4(AUTS2):c.1464C>T (p.Tyr488=) rs143055091 0.00129
NM_015570.4(AUTS2):c.385C>G (p.Leu129Val) rs145480547 0.00098
NM_015570.4(AUTS2):c.1295C>A (p.Pro432His) rs767529359 0.00038
NM_015570.4(AUTS2):c.2397G>A (p.Thr799=) rs140914046 0.00037
NM_015570.4(AUTS2):c.188C>A (p.Pro63Gln) rs199945820 0.00016
NM_015570.4(AUTS2):c.1247A>G (p.Gln416Arg) rs143679158 0.00011
NM_015570.4(AUTS2):c.979C>T (p.Arg327Cys) rs141599415 0.00006
NM_015570.4(AUTS2):c.142C>T (p.Leu48Phe) rs1475544687 0.00001
NM_015570.4(AUTS2):c.1673C>T (p.Thr558Met) rs552275264 0.00001
NM_015570.4(AUTS2):c.1727G>A (p.Arg576Gln) rs773674679 0.00001
NM_015570.4(AUTS2):c.1766G>C (p.Gly589Ala) rs756954861 0.00001
NM_015570.4(AUTS2):c.1852G>A (p.Ala618Thr) rs1203289728 0.00001
NM_015570.4(AUTS2):c.3416C>T (p.Pro1139Leu) rs762069191 0.00001
NM_015570.4(AUTS2):c.607C>T (p.Arg203Trp) rs768770455 0.00001
GRCh37/hg19 7q11.22(chr7:69848194-70190799)x1
NC_000007.13:g.(69985843_69991859)_(70221259_70228020)del
NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del
NC_000007.14:g.(70435782_70698569)_(70766334_70768023)del
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg) rs1801086
NM_003482.4(KMT2D):c.1769dup (p.Met590fs) rs1565819425
NM_015057.5(MYCBP2):c.5125G>C (p.Gly1709Arg)
NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter) rs2129556993
NM_015570.4(AUTS2):c.105CGG[5] (p.Gly39dup) rs1366255788
NM_015570.4(AUTS2):c.1132G>C (p.Val378Leu) rs771546186
NM_015570.4(AUTS2):c.1135C>T (p.Gln379Ter)
NM_015570.4(AUTS2):c.1193G>C (p.Ser398Thr) rs1195381602
NM_015570.4(AUTS2):c.1203C>T (p.Leu401=)
NM_015570.4(AUTS2):c.1276C>G (p.Pro426Ala)
NM_015570.4(AUTS2):c.128C>T (p.Thr43Ile)
NM_015570.4(AUTS2):c.1298del (p.Leu433fs) rs1057518198
NM_015570.4(AUTS2):c.1349_1357dup (p.Ala452_His453insProProAla)
NM_015570.4(AUTS2):c.1354G>A (p.Ala452Thr)
NM_015570.4(AUTS2):c.1468+5G>A rs1789837781
NM_015570.4(AUTS2):c.146C>T (p.Ala49Val) rs1792274277
NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter) rs1057517708
NM_015570.4(AUTS2):c.1486dup (p.Gln496fs) rs869312878
NM_015570.4(AUTS2):c.149C>A (p.Ser50Ter) rs775225727
NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu)
NM_015570.4(AUTS2):c.1531G>A (p.Gly511Arg)
NM_015570.4(AUTS2):c.1534dup (p.Ala512fs) rs1789927813
NM_015570.4(AUTS2):c.1547dup (p.Pro517fs) rs1585653028
NM_015570.4(AUTS2):c.1557C>A (p.Tyr519Ter)
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro) rs1563183469
NM_015570.4(AUTS2):c.1603C>T (p.His535Tyr) rs1563183492
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015570.4(AUTS2):c.1604A>C (p.His535Pro) rs1585653240
NM_015570.4(AUTS2):c.1606C>T (p.Gln536Ter)
NM_015570.4(AUTS2):c.1611C>A (p.His537Gln) rs1383001370
NM_015570.4(AUTS2):c.1617C>A (p.His539Gln)
NM_015570.4(AUTS2):c.1647dup (p.Ile550fs)
NM_015570.4(AUTS2):c.1691T>C (p.Phe564Ser)
NM_015570.4(AUTS2):c.1712T>C (p.Val571Ala) rs2129557711
NM_015570.4(AUTS2):c.1771C>T (p.Pro591Ser) rs778369039
NM_015570.4(AUTS2):c.1774C>A (p.Pro592Thr)
NM_015570.4(AUTS2):c.1775del (p.Pro592fs)
NM_015570.4(AUTS2):c.1882_1883del (p.Leu628fs) rs1585667374
NM_015570.4(AUTS2):c.1902+1G>A
NM_015570.4(AUTS2):c.1906A>G (p.Thr636Ala) rs1790618973
NM_015570.4(AUTS2):c.1908A>G (p.Thr636=)
NM_015570.4(AUTS2):c.1913del (p.Pro638fs) rs2129558877
NM_015570.4(AUTS2):c.1995_1996del (p.Lys666fs) rs2129559195
NM_015570.4(AUTS2):c.1A>T (p.Met1Leu) rs2129067294
NM_015570.4(AUTS2):c.2005-1G>C
NM_015570.4(AUTS2):c.2153C>T (p.Ala718Val)
NM_015570.4(AUTS2):c.2215G>A (p.Ala739Thr) rs1483994190
NM_015570.4(AUTS2):c.2218del (p.His740fs)
NM_015570.4(AUTS2):c.2224+1G>T
NM_015570.4(AUTS2):c.2369A>C (p.His790Pro)
NM_015570.4(AUTS2):c.2396C>T (p.Thr799Met)
NM_015570.4(AUTS2):c.2411C>T (p.Pro804Leu)
NM_015570.4(AUTS2):c.2481_2484dup (p.Asp829Ter)
NM_015570.4(AUTS2):c.2497C>T (p.Arg833Ter) rs1554487952
NM_015570.4(AUTS2):c.2531+1_2531+10del
NM_015570.4(AUTS2):c.2587G>T (p.Val863Leu) rs1791761825
NM_015570.4(AUTS2):c.2609G>A (p.Arg870His)
NM_015570.4(AUTS2):c.2693C>G (p.Ser898Trp) rs534033649
NM_015570.4(AUTS2):c.2750C>T (p.Pro917Leu)
NM_015570.4(AUTS2):c.2791G>A (p.Glu931Lys)
NM_015570.4(AUTS2):c.2867G>A (p.Ser956Asn)
NM_015570.4(AUTS2):c.2877C>G (p.Ser959Arg)
NM_015570.4(AUTS2):c.2891C>T (p.Pro964Leu)
NM_015570.4(AUTS2):c.293C>G (p.Thr98Ser)
NM_015570.4(AUTS2):c.2T>C (p.Met1Thr) rs1792258600
NM_015570.4(AUTS2):c.3001C>G (p.Arg1001Gly)
NM_015570.4(AUTS2):c.3008C>T (p.Ser1003Leu) rs543645962
NM_015570.4(AUTS2):c.3050G>A (p.Gly1017Glu)
NM_015570.4(AUTS2):c.310-100635A>G rs1451461572
NM_015570.4(AUTS2):c.310-148390G>C rs1787711433
NM_015570.4(AUTS2):c.3299C>A (p.Pro1100Gln)
NM_015570.4(AUTS2):c.3377ACC[7] (p.His1133del) rs538005366
NM_015570.4(AUTS2):c.3377ACC[9] (p.His1133dup) rs538005366
NM_015570.4(AUTS2):c.3390_3401del (p.His1130_Pro1134delinsGln)
NM_015570.4(AUTS2):c.3419G>T (p.Arg1140Leu)
NM_015570.4(AUTS2):c.3434G>T (p.Arg1145Leu)
NM_015570.4(AUTS2):c.3518C>T (p.Ala1173Val)
NM_015570.4(AUTS2):c.3520T>A (p.Ser1174Thr)
NM_015570.4(AUTS2):c.357_361dup (p.Leu121fs) rs1554401434
NM_015570.4(AUTS2):c.3632C>A (p.Thr1211Asn) rs1416757959
NM_015570.4(AUTS2):c.3643G>A (p.Ala1215Thr)
NM_015570.4(AUTS2):c.3707G>A (p.Arg1236Lys) rs201704456
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_015570.4(AUTS2):c.390_393dup (p.Gly132fs)
NM_015570.4(AUTS2):c.392_393dup (p.Gly132fs)
NM_015570.4(AUTS2):c.401C>T (p.Ser134Phe)
NM_015570.4(AUTS2):c.421A>G (p.Arg141Gly)
NM_015570.4(AUTS2):c.454C>T (p.Arg152Ter)
NM_015570.4(AUTS2):c.478C>T (p.Gln160Ter) rs2129540473
NM_015570.4(AUTS2):c.479_487delinsC (p.Gln160fs) rs2129540475
NM_015570.4(AUTS2):c.603C>T (p.Ser201=)
NM_015570.4(AUTS2):c.624+2202A>G rs2129573053
NM_015570.4(AUTS2):c.626G>A (p.Ser209Asn)
NM_015570.4(AUTS2):c.641G>T (p.Ser214Ile)
NM_015570.4(AUTS2):c.701C>T (p.Ala234Val) rs1328605193
NM_015570.4(AUTS2):c.742+1G>A rs1554464807
NM_015570.4(AUTS2):c.742_742+3del
NM_015570.4(AUTS2):c.743A>T (p.Asp248Val)
NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter) rs1585645384
NM_015570.4(AUTS2):c.857_858del (p.Lys286fs) rs864321694
NM_015570.4(AUTS2):c.895T>C (p.Cys299Arg)
NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter) rs1585645641
NM_015570.4(AUTS2):c.916A>G (p.Ile306Val) rs1789667169
NM_015570.4(AUTS2):c.91G>A (p.Gly31Arg)
NM_015570.4(AUTS2):c.932C>G (p.Thr311Arg) rs1454617445
NM_015570.4(AUTS2):c.940C>T (p.Gln314Ter)
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537
NM_015570.4:c.(690+1_691-1)_(742+1_743-1)del
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.