List of variants in gene SLC16A2 reported as uncertain significance for X-linked 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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr)	rs373279555	0.00001
NM_006517.5(SLC16A2):c.-53A>C	rs587784385
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6])	rs757881983
NM_006517.5(SLC16A2):c.1390C>A (p.Pro464Thr)
NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys)	rs933036653
NM_006517.5(SLC16A2):c.334G>C (p.Gly112Arg)	rs1928309226
NM_006517.5(SLC16A2):c.431-44029A>C	rs1303981973
NM_006517.5(SLC16A2):c.667T>G (p.Tyr223Asp)	rs1930457917
NM_006517.5(SLC16A2):c.698G>T (p.Gly233Val)
NM_006517.5(SLC16A2):c.976T>C (p.Phe326Leu)

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.