List of variants reported as likely benign for autosomal recessive disease by ClinGen Hearing Loss Variant Curation Expert Panel

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)	rs41298135	0.00281
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)	rs45629132	0.00164
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)	rs112459877	0.00122
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)	rs113107803	0.00105
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)	rs146892520	0.00098
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)	rs146824138	0.00071
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)	rs111033193	0.00069
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)	rs111033333	0.00063
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)	rs111033533	0.00054
NM_206933.4(USH2A):c.7167C>T (p.Ser2389=)	rs200243588	0.00026
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)	rs181611778	0.00007
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)	rs756969021	0.00004
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser)	rs111033240	0.00002

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.