ClinVar Miner

List of variants studied for creatine phosphokinase, elevated serum by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_033337.3(CAV3):c.*834A>T rs771619043 0.00054
NM_033337.3(CAV3):c.*741G>A rs560215660 0.00050
NM_033337.3(CAV3):c.*852G>A rs555268992 0.00022
NM_033337.3(CAV3):c.*134G>A rs949111902 0.00016
NM_033337.3(CAV3):c.125A>C (p.Glu42Ala) rs137901165 0.00011
NM_033337.3(CAV3):c.*592G>A rs187370461 0.00003
NM_033337.3(CAV3):c.433G>A (p.Val145Met) rs142475018 0.00003
NM_033337.3(CAV3):c.*441T>C rs1161338634 0.00002
NM_033337.3(CAV3):c.401C>T (p.Ala134Val) rs201267913 0.00002
NM_033337.3(CAV3):c.143C>G (p.Pro48Arg) rs1060502317 0.00001
NM_033337.3(CAV3):c.221G>A (p.Arg74His) rs201893621 0.00001
NM_033337.3(CAV3):c.247C>T (p.Pro83Ser) rs137881434 0.00001
NM_033337.3(CAV3):c.310G>A (p.Val104Met) rs944503745 0.00001
NM_033337.3(CAV3):c.310G>C (p.Val104Leu) rs944503745 0.00001
NM_033337.3(CAV3):c.60G>A (p.Lys20=) rs972788554 0.00001
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) rs116840778 0.00001
NM_033337.3(CAV3):c.*658T>A rs556491932
NM_033337.3(CAV3):c.114+2T>C rs116840787
NM_033337.3(CAV3):c.182G>A (p.Ser61Asn) rs1060502315
NM_033337.3(CAV3):c.254C>T (p.Ala85Val) rs1553614440
NM_033337.3(CAV3):c.35A>G (p.Gln12Arg) rs1707652057
NM_033337.3(CAV3):c.400G>A (p.Ala134Thr) rs773309037

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.