List of variants reported as pathogenic for Hearing loss, autosomal recessive 57

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg)	rs753034799	0.00001
NM_001195263.2(PDZD7):c.1207del (p.His403fs)	rs1554835103
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter)	rs953422571
NM_001195263.2(PDZD7):c.1576C>T (p.Gln526Ter)	rs1554834186
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter)	rs1554834161
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)	rs587776894
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu)	rs1426679303
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	rs397516633
NM_001195263.2(PDZD7):c.2136del (p.Ile714fs)
NM_001195263.2(PDZD7):c.251T>C (p.Ile84Thr)	rs773193491
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)	rs148695069
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)	rs200664140
NM_001195263.2(PDZD7):c.668del (p.Gly223fs)
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg)	rs1554835827
NM_001195263.2(PDZD7):c.918dup (p.Leu307fs)	rs2134074165

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.