List of variants in gene PNPLA2 reported as benign by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020376.4(PNPLA2):c.1442T>C (p.Leu481Pro)	rs1138693	0.73113
NM_020376.4(PNPLA2):c.696+16A>G	rs7942159	0.56588
NM_020376.4(PNPLA2):c.*248A>G	rs1138714	0.47064
NM_020376.4(PNPLA2):c.1458C>T (p.Pro486=)	rs1138694	0.21489
NM_020376.4(PNPLA2):c.1176-27C>G	rs76574419	0.10179
NM_020376.4(PNPLA2):c.696+216T>C	rs28633565	0.06263
NM_020376.4(PNPLA2):c.678C>T (p.Leu226=)	rs10902224	0.02691
NM_020376.4(PNPLA2):c.1167G>T (p.Leu389=)	rs11554663	0.02656
NM_020376.4(PNPLA2):c.793C>T (p.Pro265Ser)	rs56152088	0.01687
NM_020376.4(PNPLA2):c.756C>G (p.Asn252Lys)	rs140201358	0.00916
NM_020376.4(PNPLA2):c.1149G>A (p.Arg383=)	rs150770244	0.00637
NM_020376.4(PNPLA2):c.919+4C>T	rs148314086	0.00500
NM_020376.4(PNPLA2):c.*126TGCA[1]	rs398054898
NM_020376.4(PNPLA2):c.187+222T>G	rs28592068
NM_020376.4(PNPLA2):c.696+205TC[6]	rs200940177
NM_020376.4(PNPLA2):c.873C>G (p.Pro291=)	rs1135628

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.