ClinVar Miner

List of variants reported as uncertain significance for Spinocerebellar ataxia type 14

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002739.5(PRKCG):c.*427T>C rs886054615 0.00334
NM_002739.5(PRKCG):c.*622C>G rs1032868211 0.00046
NM_002739.5(PRKCG):c.*550C>T rs778703745 0.00035
NM_002739.5(PRKCG):c.1747G>A (p.Val583Met) rs143513754 0.00014
NM_002739.5(PRKCG):c.234C>T (p.His78=) rs143456958 0.00010
NM_002739.5(PRKCG):c.*426C>T rs1002891475 0.00006
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu) rs551805527 0.00006
NM_002739.5(PRKCG):c.*184C>T rs764816557 0.00005
NM_002739.5(PRKCG):c.1665C>T (p.Phe555=) rs556667568 0.00003
NM_002739.5(PRKCG):c.1904C>T (p.Pro635Leu) rs1360248213 0.00003
NM_002739.5(PRKCG):c.*481T>C rs886054616 0.00002
NM_002739.5(PRKCG):c.-233C>T rs752173466 0.00002
NM_002739.5(PRKCG):c.1382C>T (p.Ala461Val) rs751774653 0.00002
NM_002739.5(PRKCG):c.529+11G>T rs886054612 0.00002
NM_002739.5(PRKCG):c.*360G>C rs886054614 0.00001
NM_002739.5(PRKCG):c.*415G>C rs2068821858 0.00001
NM_002739.5(PRKCG):c.1282-14G>A rs1017029385 0.00001
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu) rs1303074743 0.00001
NM_002739.5(PRKCG):c.1900C>T (p.Arg634Cys) rs980400591 0.00001
NM_002739.5(PRKCG):c.1906-10T>C rs575700585 0.00001
NM_002739.5(PRKCG):c.1960C>T (p.Leu654=) rs753906154 0.00001
NM_002739.5(PRKCG):c.2086G>A (p.Val696Ile) rs751824637 0.00001
NM_002739.5(PRKCG):c.520C>G (p.His174Asp) rs777612378 0.00001
NM_002739.5(PRKCG):c.637C>A (p.Arg213=) rs750289253 0.00001
NM_002739.5(PRKCG):c.712C>T (p.Arg238Cys) rs771732555 0.00001
NM_002739.5(PRKCG):c.*39C>T rs776490487
NM_002739.5(PRKCG):c.1210G>A (p.Ala404Thr) rs769292201
NM_002739.5(PRKCG):c.1232G>C (p.Gly411Ala)
NM_002739.5(PRKCG):c.1346T>G (p.Leu449Arg)
NM_002739.5(PRKCG):c.1571C>G (p.Pro524Arg)
NM_002739.5(PRKCG):c.1712C>G (p.Thr571Ser)
NM_002739.5(PRKCG):c.1764+8C>T rs756397908
NM_002739.5(PRKCG):c.1962G>C (p.Leu654=) rs868833808
NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg) rs866406014
NM_002739.5(PRKCG):c.476G>A (p.Gly159Glu) rs1599943390
NM_002739.5(PRKCG):c.686+300C>G rs2068681112
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp) rs1471641294

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.