ClinVar Miner

List of variants reported as likely pathogenic by Hereditary Hearing Loss Research Unit,University of Madras

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000291.4(PGK1):c.89A>C (p.Lys30Thr) rs1569550773
NM_016239.4(MYO15A):c.4454T>C (p.Leu1485Pro) rs751973078
NM_018076.5(ARMC4):c.2765G>A (p.Gly922Glu) rs1564439559
NM_018429.3(BDP1):c.1714G>T (p.Val572Phe) rs1187285510
NM_033109.5(PNPT1):c.137C>G (p.Ala46Gly) rs540498342
NM_133261.3(GIPC3):c.400G>A (p.Ala134Thr) rs1348505504
NM_178424.2(SOX30):c.1550C>G (p.Ser517Cys) rs377581367

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.