ClinVar Miner

List of variants reported as uncertain significance for autism spectrum disorder due to AUTS2 deficiency

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_015570.4(AUTS2):c.1247A>G (p.Gln416Arg) rs143679158 0.00011
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
NM_015057.5(MYCBP2):c.5125G>C (p.Gly1709Arg)
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.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.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.1527C>A (p.Asp509Glu)
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015570.4(AUTS2):c.1617C>A (p.His539Gln)
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.1906A>G (p.Thr636Ala) rs1790618973
NM_015570.4(AUTS2):c.1908A>G (p.Thr636=)
NM_015570.4(AUTS2):c.2153C>T (p.Ala718Val)
NM_015570.4(AUTS2):c.2369A>C (p.His790Pro)
NM_015570.4(AUTS2):c.2396C>T (p.Thr799Met)
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.3001C>G (p.Arg1001Gly)
NM_015570.4(AUTS2):c.3008C>T (p.Ser1003Leu) rs543645962
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[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.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.401C>T (p.Ser134Phe)
NM_015570.4(AUTS2):c.421A>G (p.Arg141Gly)
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.701C>T (p.Ala234Val) rs1328605193
NM_015570.4(AUTS2):c.743A>T (p.Asp248Val)
NM_015570.4(AUTS2):c.895T>C (p.Cys299Arg)
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
Single allele

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