ClinVar Miner

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

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala) rs202228620 0.00005
NM_001379451.1(BCORL1):c.532A>G (p.Thr178Ala) rs778220343 0.00004
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) rs765379963 0.00002
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_001379110.1(SLC9A6):c.1662-19_1662-3del rs1569525894
NM_004115.4(FGF14):c.486dup (p.Arg163fs) rs1566823361
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
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.