List of variants studied for Developmental and epileptic encephalopathy, 64 by SIB Swiss Institute of Bioinformatics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly)	rs1554504656
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)	rs1554504663
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys)	rs1563292586
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp)	rs1554504678
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)	rs1554504681
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln)	rs1554504684

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.