ClinVar Miner

List of variants reported as likely pathogenic for Autism spectrum disorder by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) rs1415420832 0.00001
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp) rs2063451959
NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)
NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)
NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu)
NM_001197104.2(KMT2A):c.10835+1G>A
NM_001271.4(CHD2):c.3427T>G (p.Tyr1143Asp)
NM_001320.7(CSNK2B):c.72+1G>T
NM_001376.5(DYNC1H1):c.4396-1G>C
NM_001386298.1(CIC):c.4981delinsCTTCCC (p.Thr1661fs)
NM_001388303.1(HECTD4):c.9724dup (p.Ala3242fs)
NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) rs1601405064
NM_003797.5(EED):c.767T>C (p.Met256Thr)
NM_005215.4(DCC):c.617A>T (p.Asp206Val)
NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)
NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr) rs1595127294
NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)
NM_014159.7(SETD2):c.5122C>T (p.Arg1708Ter)
NM_014704.4(CEP104):c.1241T>A (p.Leu414Ter)
NM_014712.3(SETD1A):c.2981_2982del (p.Val994fs)
NM_014989.7(RIMS1):c.1679-20550G>A
NM_015001.3(SPEN):c.7232C>A (p.Ser2411Ter)
NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)
NM_015151.4(DIP2A):c.1429+2T>G
NM_015570.4(AUTS2):c.983_984del (p.Thr328fs)
NM_016604.4(KDM3B):c.3047-1G>A
NM_018263.6(ASXL2):c.2326A>C (p.Thr776Pro)
NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter)
NM_031466.8(TRAPPC9):c.-68C>T
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter) rs1034583315

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.