ClinVar Miner

List of variants in gene PRKRA reported as uncertain significance for basal ganglia disorder

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003690.5(PRKRA):c.-104G>A rs545506202 0.00168
NM_003690.4(PRKRA):c.-149T>C rs559331370 0.00066
NM_003690.5(PRKRA):c.-124C>A rs186454714 0.00060
NM_003690.5(PRKRA):c.-125G>A rs190533045 0.00060
NM_003690.5(PRKRA):c.-64C>G rs576729883 0.00041
NM_003690.5(PRKRA):c.-65C>G rs557426364 0.00009
NM_003690.5(PRKRA):c.233C>A (p.Thr78Lys) rs189979808 0.00008
NM_003690.5(PRKRA):c.54T>C (p.Ser18=) rs1235471739 0.00006
NM_003690.5(PRKRA):c.85G>A (p.Ala29Thr) rs1293335092 0.00003
NM_003690.5(PRKRA):c.335C>G (p.Pro112Arg) rs151157679 0.00002
NM_003690.5(PRKRA):c.-117C>T rs886055204 0.00001
NM_003690.5(PRKRA):c.-141C>A rs1395280729 0.00001
NM_003690.5(PRKRA):c.397-6T>G rs1031316165 0.00001
NM_003690.5(PRKRA):c.40G>A (p.Glu14Lys) rs933550231 0.00001
NM_003690.5(PRKRA):c.77T>A (p.Met26Lys) rs755656753 0.00001
NM_003690.5(PRKRA):c.80T>C (p.Ile27Thr) rs780703241 0.00001
NM_003690.5(PRKRA):c.-11C>T rs767401214
NM_003690.5(PRKRA):c.-133C>G rs80197731
NM_003690.5(PRKRA):c.-14C>T rs181793341
NM_003690.5(PRKRA):c.109C>G (p.Gln37Glu) rs2154125583
NM_003690.5(PRKRA):c.131T>C (p.Met44Thr) rs1553599437
NM_003690.5(PRKRA):c.161G>T (p.Cys54Phe)
NM_003690.5(PRKRA):c.1A>G (p.Met1Val) rs9406386
NM_003690.5(PRKRA):c.230G>C (p.Cys77Ser) rs2154125572
NM_003690.5(PRKRA):c.250AAG[3] (p.Lys85_Leu86insLys)
NM_003690.5(PRKRA):c.256C>G (p.Leu86Val) rs1311237497
NM_003690.5(PRKRA):c.25G>A (p.Glu9Lys)
NM_003690.5(PRKRA):c.270A>C (p.Arg90Ser)
NM_003690.5(PRKRA):c.286A>G (p.Ile96Val)
NM_003690.5(PRKRA):c.308C>T (p.Ala103Val) rs2154125404
NM_003690.5(PRKRA):c.318-20C>G
NM_003690.5(PRKRA):c.319T>C (p.Phe107Leu) rs1369422271
NM_003690.5(PRKRA):c.32C>G (p.Pro11Arg) rs62176112
NM_003690.5(PRKRA):c.377A>G (p.Asn126Ser) rs1553597653
NM_003690.5(PRKRA):c.500C>T (p.Ser167Leu) rs747134851
NM_003690.5(PRKRA):c.514+2T>A
NM_003690.5(PRKRA):c.535C>T (p.Gln179Ter)
NM_003690.5(PRKRA):c.578G>C (p.Ser193Thr)
NM_003690.5(PRKRA):c.581A>G (p.Asn194Ser)
NM_003690.5(PRKRA):c.71G>C (p.Gly24Ala)

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.