List of variants reported as uncertain significance for inherited focal segmental glomerulosclerosis by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_173689.7(CRB2):c.38C>T (p.Ala13Val)	rs199695001	0.00046
NM_173689.7(CRB2):c.2741C>T (p.Ala914Val)	rs1221877694	0.00003
NM_004998.4(MYO1E):c.1644A>C (p.Glu548Asp)	rs1020273476	0.00002
NM_004924.6(ACTN4):c.1607G>A (p.Arg536His)	rs1388506902	0.00001
NM_173689.7(CRB2):c.2914C>T (p.Arg972Cys)	rs1236510733	0.00001
NM_004621.6(TRPC6):c.101T>C (p.Met34Thr)	rs758531773
NM_004621.6(TRPC6):c.1513A>G (p.Met505Val)	rs1859421755
NM_004621.6(TRPC6):c.2486T>A (p.Val829Asp)	rs1858853619
NM_004998.4(MYO1E):c.1085G>A (p.Arg362Gln)
NM_004998.4(MYO1E):c.2627C>G (p.Thr876Arg)	rs147596471
NM_018685.5(ANLN):c.1979A>G (p.Asp660Gly)	rs1787820175
NM_018685.5(ANLN):c.3035A>T (p.Asn1012Ile)
NM_173689.7(CRB2):c.2314C>G (p.Leu772Val)	rs376152518
NM_173689.7(CRB2):c.429C>T (p.Cys143=)	rs2041924139

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.