ClinVar Miner

List of variants studied for pontocerebellar hypoplasia type 6 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (1):

Pontocerebellar hypoplasia type 6

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020320.5(RARS2):c.1152G>T (p.Lys384Asn)
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
NM_020320.5(RARS2):c.284_285del (p.Glu95fs)	rs767056243
NM_020320.5(RARS2):c.602A>G (p.His201Arg)

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.