List of variants in gene SNAP25 reported by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_130811.4(SNAP25):c.330C>T (p.Asp110=)	rs362998	0.10905
NM_130811.4(SNAP25):c.553-4C>T	rs79020892	0.01788
NM_130811.4(SNAP25):c.75G>T (p.Ser25=)	rs147866099	0.00128
NM_130811.4(SNAP25):c.6C>T (p.Ala2=)	rs11547858	0.00040
NM_130811.4(SNAP25):c.534C>T (p.Ile178=)	rs200030321	0.00025
NM_130811.4(SNAP25):c.*1G>C	rs533404025	0.00008
NM_130811.4(SNAP25):c.366C>T (p.Asp122=)	rs377498338	0.00008
NM_130811.4(SNAP25):c.513C>T (p.Ile171=)	rs372122045	0.00005
NM_130811.4(SNAP25):c.462C>T (p.Ser154=)	rs201639889	0.00004
NM_130811.4(SNAP25):c.89G>A (p.Arg30His)	rs577791521	0.00001
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)	rs797044873
NM_130811.4(SNAP25):c.164-263C>T
NM_130811.4(SNAP25):c.24C>A (p.Arg8=)
NM_130811.4(SNAP25):c.4G>A (p.Ala2Thr)	rs769950821
NM_130811.4(SNAP25):c.591A>C (p.Gln197His)	rs2064355285

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.