ClinVar Miner

List of variants reported as benign for Dystonia 16 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003690.5(PRKRA):c.685C>T (p.Leu229=) rs62176107 0.22118
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn) rs77419724 0.13676
NM_003690.5(PRKRA):c.173A>G (p.Asp58Gly) rs61999302 0.05105
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu) rs9406386 0.04725
NM_003690.5(PRKRA):c.609+20A>G rs73973115 0.02096
NM_003690.5(PRKRA):c.795C>T (p.Ser265=) rs150679361 0.00662
NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu) rs62176112 0.00410
NM_003690.5(PRKRA):c.65+16G>A rs565738732 0.00168
NM_003690.5(PRKRA):c.65+10C>T rs535076601 0.00028
NM_003690.5(PRKRA):c.203T>A (p.Phe68Tyr) rs539630421
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs) rs141354030
NM_003690.5(PRKRA):c.515-11del rs199996045
NM_003690.5(PRKRA):c.610-11_610-10del rs138320145
NM_003690.5(PRKRA):c.784+15del rs200581051
NM_003690.5(PRKRA):c.784+15dup rs200581051

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.