List of variants in gene SIX1 reported as likely pathogenic for Branchiootic syndrome 3

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005982.4(SIX1):c.316G>A (p.Val106Met)	rs2140241235
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)	rs797044960
NM_005982.4(SIX1):c.386_391del (p.Tyr129_Cys130del)	rs2502643915
NM_005982.4(SIX1):c.397_399del (p.Glu133del)	rs80356460
NM_005982.4(SIX1):c.416T>G (p.Leu139Arg)	rs1895001312
NM_005982.4(SIX1):c.421G>T (p.Glu141Ter)	rs761906849
NM_005982.4(SIX1):c.560+1G>C	rs863223330
NM_005982.4(SIX1):c.733A>G (p.Asn245Asp)	rs2502639357

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.