List of variants in gene TBR1 reported as pathogenic for Autism, susceptibility to, 5

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

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006593.4(TBR1):c.1049dup (p.Thr350_Ser351insTer)	rs1684180699
NM_006593.4(TBR1):c.1120A>C (p.Asn374His)	rs1684182454
NM_006593.4(TBR1):c.1126G>C (p.Asp376His)	rs2468093926
NM_006593.4(TBR1):c.1132A>T (p.Thr378Ser)	rs2105280445
NM_006593.4(TBR1):c.1165A>G (p.Lys389Glu)	rs1553510677
NM_006593.4(TBR1):c.1174C>T (p.Arg392Trp)	rs2105280472
NM_006593.4(TBR1):c.1190+2T>G	rs1231294235
NM_006593.4(TBR1):c.1220dup (p.Thr408fs)	rs2468098890
NM_006593.4(TBR1):c.1250C>A (p.Ser417Ter)	rs2468098938
NM_006593.4(TBR1):c.163dup (p.Ile55fs)	rs2468090210
NM_006593.4(TBR1):c.1731dup (p.Ala578fs)	rs1574152672
NM_006593.4(TBR1):c.405del (p.Ala136fs)	rs1684130791
NM_006593.4(TBR1):c.412_413dup (p.Ile139fs)	rs2468090604
NM_006593.4(TBR1):c.507C>A (p.Tyr169Ter)
NM_006593.4(TBR1):c.682A>G (p.Lys228Glu)	rs1553510219
NM_006593.4(TBR1):c.813G>T (p.Trp271Cys)	rs1559060428
NM_006593.4(TBR1):c.969+1G>C	rs2105279320

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.