ClinVar Miner

List of variants in gene PCYT1A reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001312673.2(PCYT1A):c.897+160C>T rs1580820 0.90716
NM_001312673.2(PCYT1A):c.708+176C>T rs1045075 0.34398
NM_001312673.2(PCYT1A):c.334+142A>T rs12490786 0.11819
NM_001312673.2(PCYT1A):c.566-225C>T rs56225736 0.10255
NM_001312673.2(PCYT1A):c.*50A>G rs3184886 0.09161
NM_001312673.2(PCYT1A):c.903T>C (p.His301=) rs116712058 0.01090
NM_001312673.2(PCYT1A):c.996C>G (p.Pro332=) rs61737911 0.00185
NM_001312673.2(PCYT1A):c.243C>T (p.Ala81=) rs145098418 0.00009
NM_001312673.2(PCYT1A):c.1017C>T (p.Ser339=) rs372804569 0.00006
NM_001312673.2(PCYT1A):c.897+12C>T rs201805549 0.00005
NM_001312673.2(PCYT1A):c.118-6C>T rs117022639 0.00003
NM_001312673.2(PCYT1A):c.218-90G>C rs3772107
NM_001312673.2(PCYT1A):c.58G>C (p.Gly20Arg) rs142952629

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.