List of variants in gene LIPA reported as benign for Wolman disease

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_000235.4(LIPA):c.112-304G>A	rs2246833	0.37475
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro)	rs1051338	0.25399
NM_000235.4(LIPA):c.*909T>A	rs1131706	0.21939
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg)	rs1051339	0.13459
NM_000235.4(LIPA):c.894+7A>G	rs12255537	0.00545
NM_000235.4(LIPA):c.1113A>G (p.Glu371=)	rs116827211	0.00302
NM_000235.4(LIPA):c.756A>C (p.Ile252=)	rs145037134	0.00170
NM_000235.4(LIPA):c.539-17G>A	rs41284118	0.00110
NM_000235.4(LIPA):c.112-6C>T	rs141302830	0.00063
NM_000235.4(LIPA):c.230-4T>C	rs778642279	0.00034
NM_000235.4(LIPA):c.396C>G (p.Leu132=)	rs201603238	0.00024
NM_000235.4(LIPA):c.539-20dup
NM_000235.4(LIPA):c.539-5C>T	rs2297472
NM_000235.4(LIPA):c.539-6_539-5delinsCT	rs1589555777
NM_000235.4(LIPA):c.822+37del	rs752384602
NM_000235.4(LIPA):c.822+37dup	rs752384602

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.