ClinVar Miner

List of variants in gene PNPLA6 reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
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_001166114.2(PNPLA6):c.2465+41C>G rs534464 0.79112
NM_001166114.2(PNPLA6):c.2634+39T>C rs599330 0.76480
NM_001166114.2(PNPLA6):c.1362+8T>C rs620744 0.68799
NM_001166114.2(PNPLA6):c.3398-36G>A rs535208 0.58035
NM_001166114.2(PNPLA6):c.2260+24G>A rs473899 0.50240
NM_001166114.2(PNPLA6):c.3280+38C>T rs489056 0.47937
NM_001166114.2(PNPLA6):c.3699+41C>T rs538850 0.41358
NM_001166114.2(PNPLA6):c.2818-19A>G rs563826 0.35658
NM_001166114.2(PNPLA6):c.2635-19A>C rs539887 0.35604
NM_001166114.2(PNPLA6):c.1253-6C>T rs574930 0.32237
NM_001166114.2(PNPLA6):c.3699+42G>A rs538852 0.24937
NM_001166114.2(PNPLA6):c.2634+38G>C rs599328
NM_001166114.2(PNPLA6):c.3913+23del rs11307097

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.