ClinVar Miner

List of variants studied for Perrault syndrome by Deafness Molecular Diagnostic Center, Chinese PLA General Hospital

Included ClinVar conditions (14):

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_012208.4(HARS2):c.1320G>T (p.Glu440Asp)	rs1429114032
NM_012208.4(HARS2):c.322T>C (p.Tyr108His)	rs2149852638
NM_015340.4(LARS2):c.1783del (p.Ala595fs)	rs2125750668
NM_015340.4(LARS2):c.41_42del (p.Leu14fs)	rs1698009919

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.