ClinVar Miner

List of variants in gene PDK3 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NC_000023.10:g.(?_24483553)_(24483698_?)del
NC_000023.10:g.(?_24483553)_(24557301_?)dup
NC_000023.10:g.(?_24512839)_(24557301_?)del
NM_005391.4(PDK3):c.1087dup (p.Ser363fs) rs1569228214
NM_005391.4(PDK3):c.1126G>A (p.Ala376Thr)
NM_005391.4(PDK3):c.160C>T (p.Pro54Ser) rs1569221445
NM_005391.4(PDK3):c.320+6T>C rs748960946
NM_005391.4(PDK3):c.474C>T (p.Arg158=)
NM_005391.4(PDK3):c.486C>T (p.Arg162=)
NM_005391.4(PDK3):c.562G>A (p.Asp188Asn) rs1165981822
NM_005391.4(PDK3):c.582G>A (p.Ala194=)
NM_005391.4(PDK3):c.597del (p.Asp199fs) rs1569225940
NM_005391.4(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_005391.4(PDK3):c.811A>G (p.Lys271Glu)

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.