ClinVar Miner

List of variants studied for autism (disease) by CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_001042537.1(SLC9A6):c.1728-19_1728-3del rs1569525894
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala)
NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)
NM_021946.4(BCORL1):c.532A>G (p.Thr178Ala)
NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_175929.2(FGF14):c.501dup (p.Arg168fs) rs1566823361
NM_182641.4(BPTF):c.5337_5338del (p.Val1780fs) rs1568070621

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.