ClinVar Miner

List of variants reported for Autism spectrum disorder by Liping Wei Laboratory, Peking University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483 0.00001
NM_152722.5(HEPACAM):c.803+1G>A rs375712202 0.00001
10q21.3duplication
15q11.2-12duplication
15q13.3duplication
15q25.3duplication
16q24.1duplication
1q41 duplication
1q42.2deletion
20p12.1duplication
22q11.21deletion
2q14.3duplication
2q24.3deletion
2q37.3deletion
4q35.2deletion
5p15.31duplication
6p22.3duplication
6q23.3deletion
7q31.1duplication
7q31.32deletion
7q32.3duplication
7q35 duplication
8q24.13duplication
8q24.3duplication
9p24.1deletion
NM_000314.8(PTEN):c.-116dup rs1564801388
NM_000314.8(PTEN):c.-60dup rs1564801473
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter) rs121912562
NM_001042492.3(NF1):c.1721+21dup rs762735676
NM_001111125.3(IQSEC2):c.1229del (p.Pro410fs) rs1569305431
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
NM_002397.5(MEF2C):c.403-1G>T rs1561824498
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter) rs796052733
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter) rs1569513495
NM_012309.5(SHANK2):c.4304_4305del (p.Leu1434_Ser1435insTer) rs1565527302
NM_014141.6(CNTNAP2):c.1778-1G>C rs1396313317
NM_021008.4(DEAF1):c.664+2T>G rs1564950387
NM_032322.4(RNF135):c.1015del (p.Val339fs) rs724159978
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs) rs1555910143
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772

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.