ClinVar Miner

List of variants in gene NAGLU reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99480
NM_000263.4(NAGLU):c.531+50G>C rs2071046 0.74899
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297 0.00252
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665 0.00063
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331 0.00040
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961 0.00019
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316 0.00016
NM_000263.4(NAGLU):c.631G>A (p.Asp211Asn) rs145452809 0.00009
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=) rs369789056 0.00008
NM_000263.4(NAGLU):c.1839C>T (p.Asp613=) rs143580194 0.00005
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053 0.00004
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666 0.00004
NM_000263.4(NAGLU):c.1326C>A (p.Gly442=) rs757069066 0.00001
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478 0.00001
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu) rs118204025 0.00001
NM_000263.4(NAGLU):c.*8G>A
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=) rs146438251
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=) rs146438251
NM_000263.4(NAGLU):c.1998G>A (p.Leu666=)
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000263.4(NAGLU):c.397C>T (p.Gln133Ter)
NM_000263.4(NAGLU):c.430TGG[1] (p.Trp145del)

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.