ClinVar Miner

List of variants reported as pathogenic for Autism spectrum disorder

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_005215.4(DCC):c.2260G>A (p.Val754Met) rs775565634 0.00008
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097 0.00001
NM_004562.3(PRKN):c.850G>C (p.Gly284Arg) rs751037529 0.00001
NM_016188.5(ACTL6B):c.1177G>A (p.Gly393Arg) rs986702153 0.00001
NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys) rs750896617 0.00001
15q11.2-12duplication
15q13.3duplication
15q25.3duplication
1q42.2deletion
22q11.21deletion
2q37.3deletion
7q31.32deletion
7q32.3duplication
7q35 duplication
9p24.1deletion
GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211)
GRCh38/hg38 15q11.2(chr15:22633497-23084434)
GRCh38/hg38 16p11.2(chr16:28825316-29028291)
GRCh38/hg38 16p13.11(chr16:15399656-16194269)
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)
GRCh38/hg38 16p13.2(chr16:8937723-10049200)
GRCh38/hg38 17q12(chr17:36466109-37946106)
GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000834.5(GRIN2B):c.23_24insC (p.Ser9fs)
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter) rs121912562
NM_001039469.3(MARK2):c.1101+1G>A
NM_001039469.3(MARK2):c.1120del (p.Thr374fs) rs1554985733
NM_001039469.3(MARK2):c.1181dup (p.Val395fs)
NM_001039469.3(MARK2):c.1750C>T (p.Arg584Ter)
NM_001039469.3(MARK2):c.1769del (p.Gly590fs)
NM_001039469.3(MARK2):c.1888dup (p.Ala630fs)
NM_001039469.3(MARK2):c.2168_2169del (p.Cys723fs)
NM_001039469.3(MARK2):c.2239C>T (p.Gln747Ter)
NM_001039469.3(MARK2):c.288dup (p.Leu97fs)
NM_001039469.3(MARK2):c.337+1G>T
NM_001039469.3(MARK2):c.757C>T (p.Gln253Ter)
NM_001039469.3(MARK2):c.812del (p.Phe271fs)
NM_001039469.3(MARK2):c.904C>T (p.Arg302Ter) rs1468332923
NM_001039469.3(MARK2):c.989-1G>A
NM_001040142.2(SCN2A):c.1800del (p.Phe601fs)
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter) rs587784464
NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter)
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001162501.2(TNRC6B):c.2641C>T (p.Gln881Ter)
NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs)
NM_001170629.2(CHD8):c.2345del (p.His782fs) rs886039692
NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter) rs1131691548
NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)
NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs) rs774152851
NM_001271.4(CHD2):c.995_999del (p.Val332fs)
NM_001291415.2(KDM6A):c.3190dup (p.Trp1064fs)
NM_001330078.2(NRXN1):c.1066del (p.Glu356fs)
NM_001330078.2(NRXN1):c.3430C>T (p.Arg1144Ter) rs1282230077
NM_001330078.2(NRXN1):c.471dup (p.Leu158fs)
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001372044.2(SHANK3):c.2990del (p.Pro997fs) rs2083275928
NM_001372044.2(SHANK3):c.3649_3650del (p.Leu1217fs) rs1555910143
NM_001372044.2(SHANK3):c.3904dup (p.Ala1302fs) rs762292772
NM_001375380.1(EBF3):c.232C>T (p.Gln78Ter)
NM_001375765.1(GIGYF1):c.1683del (p.Leu562fs)
NM_001375765.1(GIGYF1):c.3106T>G (p.Ter1036Gly)
NM_001375765.1(GIGYF1):c.658del (p.Arg220fs)
NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter) rs2105571544
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
NM_001378418.1(TCF20):c.2803C>T (p.Gln935Ter)
NM_001385012.1(NBEA):c.5206dup (p.Ser1736fs)
NM_002397.5(MEF2C):c.403-1G>T rs1561824498
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter) rs796052733
NM_002585.4(PBX1):c.550C>T (p.Arg184Ter) rs1553248081
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter) rs767240461
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)
NM_006766.5(KAT6A):c.3661G>A (p.Glu1221Lys)
NM_012309.5(SHANK2):c.4304_4305del (p.Leu1434_Ser1435insTer) rs1565527302
NM_016188.5(ACTL6B):c.1249G>T (p.Gly417Trp) rs746964903
NM_016188.5(ACTL6B):c.460C>T (p.Leu154Phe) rs2131335751
NM_016188.5(ACTL6B):c.465del (p.Ala156fs) rs2131335747
NM_016188.5(ACTL6B):c.523A>C (p.Thr175Pro) rs2131334872
NM_016188.5(ACTL6B):c.892C>T (p.Arg298Ter) rs2131333638
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_024496.4(IRF2BPL):c.1846del (p.Ala616fs)
NM_030632.3(ASXL3):c.3737C>A (p.Ser1246Ter)
NM_030632.3(ASXL3):c.4409del (p.Pro1470fs)
NM_032322.4(RNF135):c.1015del (p.Val339fs) rs724159978
NM_138576.4(BCL11B):c.784_820del (p.Arg262fs)
NM_170606.3(KMT2C):c.8649del (p.Arg2884fs) rs2093231242
Single allele

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.