ClinVar Miner

List of variants studied for Autism spectrum disorder by Gene Friend Way, National Innovation Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
HLA-B*57:01 rs2395029 0.02358
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys) rs76187047 0.01292
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_005215.4(DCC):c.2260G>A (p.Val754Met) rs775565634 0.00008
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter) rs201037487 0.00004
NM_001059.3(TACR3):c.692C>T (p.Thr231Ile) rs764659822 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004562.3(PRKN):c.850G>C (p.Gly284Arg) rs751037529 0.00001
NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys) rs750896617 0.00001
NC_000009.12:g.27536399C>T
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter) rs587784464
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_006766.5(KAT6A):c.3661G>A (p.Glu1221Lys)
NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met) rs61745597
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221

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.