List of variants in gene SLC17A5 reported by CeGaT Center for Human Genetics Tuebingen

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012434.5(SLC17A5):c.*560G>A	rs115453489	0.00594
NM_012434.5(SLC17A5):c.820-3C>T	rs12201641	0.00436
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)	rs74360232	0.00215
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)	rs80338794	0.00049
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)	rs147732875	0.00041
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)	rs200632199	0.00032
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)	rs201284672	0.00013
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)	rs80338795	0.00007
NM_012434.5(SLC17A5):c.1112-8A>C	rs1581962639
NM_012434.5(SLC17A5):c.1223del (p.Ser408fs)	rs868677428
NM_012434.5(SLC17A5):c.837A>G (p.Ser279=)	rs2150099452

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.