List of variants reported as not provided for cranial nerve neuropathy by GenomeConnect, ClinGen

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_001098.3(ACO2):c.220C>G (p.Leu74Val)	rs141772938	0.00383
NM_130837.3(OPA1):c.1877G>A (p.Arg626His)	rs140606054	0.00006
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr)	rs1445523438	0.00001
NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr)	rs552090021	0.00001
NC_012920.1(MT-CYB):m.15485C>T
NC_012920.1(MT-ND5):m.13763C>T	rs1603224344
NC_012920.1:m.11778G>A	rs199476112
NC_012920.1:m.14484T>C	rs199476104
NC_012920.1:m.8686T>C	rs1569484231
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)	rs2143165387
NM_025136.4(OPA3):c.55G>A (p.Val19Ile)	rs1343690502
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu)	rs1553876590
NM_130837.3(OPA1):c.2873_2876del	rs80356530

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.