List of variants studied for hereditary dementia by Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)	rs2071421	0.19530
NM_000041.4(APOE):c.388T>C (p.Cys130Arg)	rs429358	0.16059
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)	rs137852959	0.00024
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)	rs121907985	0.00004
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr)	rs1012947103	0.00001
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)	rs201774661

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.