List of variants reported as pathogenic for Mitochondrial non-syndromic sensorineural hearing loss

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-CO1):m.7444G>A	rs199474822
NC_012920.1(MT-CYB):m.1095T>C	rs267606618
NC_012920.1(MT-ND1):m.1494C>T	rs267606619
NC_012920.1(MT-ND1):m.1555A>G	rs267606617
NC_012920.1(MT-ND1):m.3388C>A	rs387906730
NC_012920.1(MT-TI):m.4295A>G	rs121434467
NC_012920.1(MT-TS1):m.7445A>C	rs199474818
NC_012920.1(MT-TS1):m.7445A>G	rs199474818
NC_012920.1(MT-TS1):m.7445A>T	rs199474818
NC_012920.1(MT-TS1):m.7471dup	rs111033319
NC_012920.1(MT-TS1):m.7505T>C	rs724159989
NC_012920.1(MT-TS1):m.7511T>C	rs199474821
NC_012920.1:m.7443A>G	rs397507452
NC_012920.1:m.827A>G	rs28358569
m.12201T>C	rs387906733
m.1291T>C	rs267606620
m.7510T>C	rs199474820
m.961T>G	rs3888511

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.