List of variants in gene POLG reported as likely pathogenic for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	rs121918054	0.00093
NM_002693.3(POLG):c.2629A>G (p.Met877Val)	rs754025885	0.00001
NM_002693.2(POLG):c.[2693T>C];[924G>T]
NM_002693.3(POLG):c.1251-2A>G	rs2055536585
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp)	rs1596358408
NM_002693.3(POLG):c.1837C>G (p.His613Asp)	rs147407423
NM_002693.3(POLG):c.2063G>A (p.Trp688Ter)
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg)	rs1484810169
NM_002693.3(POLG):c.3483-3C>G

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.