List of variants in gene PDXK studied for Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003681.5(PDXK):c.*14T>C	rs7527	0.49363
NM_003681.5(PDXK):c.387G>A (p.Pro129=)	rs11539534	0.09312
NM_003681.5(PDXK):c.331+26T>G	rs114593958	0.03036
NM_003681.5(PDXK):c.374C>T (p.Ser125Leu)	rs77734576	0.00229
NM_003681.5(PDXK):c.659G>A (p.Arg220Gln)	rs759333796	0.00001
NM_003681.5(PDXK):c.682G>A (p.Ala228Thr)	rs757480516	0.00001
NM_003681.5(PDXK):c.225T>A (p.Asn75Lys)	rs1601814238
NM_003681.5(PDXK):c.509G>A (p.Arg170Gln)

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.