List of variants reported as uncertain significance for autosomal dominant nonsyndromic hearing loss 41

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

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_170682.4(P2RX2):c.381+2T>C	rs200978001	0.00022
NM_170682.4(P2RX2):c.905G>C (p.Arg302Thr)	rs2041656946	0.00001
NM_170682.4(P2RX2):c.1037C>G (p.Ala346Gly)
NM_170682.4(P2RX2):c.1055T>G (p.Val352Gly)	rs2138394748
NM_170682.4(P2RX2):c.459_554+1dup	rs2138365971
NM_170682.4(P2RX2):c.490C>T (p.Gln164Ter)	rs1488690731
NM_170682.4(P2RX2):c.804_806del (p.Trp268_Asp269delinsCys)

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.