List of variants in gene KLHL41 reported as benign for congenital myopathy

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006063.3(KLHL41):c.811G>A (p.Ala271Thr)	rs28763868	0.08132
NM_006063.3(KLHL41):c.1251A>G (p.Val417=)	rs79580851	0.01239
NM_006063.3(KLHL41):c.8C>T (p.Ser3Phe)	rs28730867	0.00983
NM_006063.3(KLHL41):c.1441A>G (p.Met481Val)	rs34623017	0.00692
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg)	rs139415849	0.00597
NM_006063.3(KLHL41):c.15G>A (p.Arg5=)	rs144048872	0.00495
NM_006063.3(KLHL41):c.1737T>C (p.Ala579=)	rs76875207	0.00160
NM_006063.3(KLHL41):c.684A>C (p.Thr228=)	rs141395388	0.00123
NM_006063.3(KLHL41):c.652G>A (p.Val218Met)	rs147527225	0.00096
NM_006063.3(KLHL41):c.1578C>T (p.Thr526=)	rs562170123	0.00022
NM_006063.3(KLHL41):c.1111-21_1111-18del	rs143361344
NM_006063.3(KLHL41):c.1111-4del
NM_006063.3(KLHL41):c.1111-4dup	rs752977858
NM_006063.3(KLHL41):c.1710-11dup	rs762591099
NM_006063.3(KLHL41):c.519A>G (p.Gln173=)	rs144844327

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.