ClinVar Miner

List of variants in gene PNPLA6 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser) rs142422525 0.00002
NM_001166114.2(PNPLA6):c.3868C>T (p.Arg1290Trp) rs369159451 0.00002
NM_001166114.2(PNPLA6):c.3805C>T (p.Arg1269Cys) rs2024064953 0.00001
NM_001166114.2(PNPLA6):c.2684_2688del (p.Val895fs)
NM_001166114.2(PNPLA6):c.3265C>T (p.Arg1089Ter) rs562113164
NM_001166114.2(PNPLA6):c.459del (p.Glu153fs) rs2146050043

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.