List of variants reported as uncertain significance for autism, susceptiblity to by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001170629.2(CHD8):c.4921+5G>A	rs377595194	0.00020
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)	rs553367989	0.00019
NM_012309.5(SHANK2):c.4313T>C (p.Val1438Ala)	rs781890061	0.00004
NM_001170629.2(CHD8):c.412G>C (p.Val138Leu)	rs767023297	0.00001
NM_001170629.2(CHD8):c.7079G>A (p.Arg2360His)	rs1887513652	0.00001
NM_001170629.2(CHD8):c.7461C>G (p.Asp2487Glu)	rs967570036	0.00001
NM_001170629.2(CHD8):c.596A>C (p.Lys199Thr)
NM_001170629.2(CHD8):c.6060G>C (p.Glu2020Asp)
NM_001282874.2(SMARCA1):c.3068T>C (p.Ile1023Thr)
NM_173495.3(PTCHD1):c.1256C>G (p.Ser419Trp)
NM_173495.3(PTCHD1):c.458T>C (p.Ile153Thr)
NM_181303.2(NLGN3):c.707A>G (p.Asn236Ser)	rs2092405042
NM_181332.3(NLGN4X):c.2428G>A (p.Gly810Arg)	rs1181689310
NM_181332.3(NLGN4X):c.872A>G (p.Tyr291Cys)	rs2032034964

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.