List of variants in gene KLHL15 reported as uncertain significance for Intellectual disability, X-linked 103

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_030624.3(KLHL15):c.820C>T (p.Arg274Cys)	rs1195344747	0.00001
NM_030624.3(KLHL15):c.1000G>A (p.Gly334Arg)
NM_030624.3(KLHL15):c.1406A>G (p.Glu469Gly)	rs2518903922
NM_030624.3(KLHL15):c.1493_1494del (p.Val498fs)	rs2518903866
NM_030624.3(KLHL15):c.1543T>C (p.Tyr515His)
NM_030624.3(KLHL15):c.217C>G (p.His73Asp)	rs1929447820
NM_030624.3(KLHL15):c.26G>A (p.Cys9Tyr)	rs1929450178
NM_030624.3(KLHL15):c.391G>A (p.Glu131Lys)	rs1602008532
NM_030624.3(KLHL15):c.710A>T (p.Lys237Met)	rs1929031015
NM_030624.3(KLHL15):c.91C>T (p.Leu31Phe)	rs2518542081

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.