List of variants reported as likely pathogenic for Frontotemporal dementia by Guerreiro-Bras Laboratory, Van Andel Institute

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_015046.7(SETX):c.638C>T (p.Ser213Phe)	rs1254442456	0.00038
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)	rs186547381	0.00017
NM_000750.5(CHRNB4):c.658G>A (p.Val220Met)	rs774714066	0.00013
NM_018965.4(TREM2):c.117C>G (p.Asp39Glu)	rs200392967	0.00005
NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp)	rs150368544	0.00002
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met)	rs121912282	0.00001
NM_001761.3(CCNF):c.373G>A (p.Glu125Lys)	rs376056912	0.00001
NM_015046.7(SETX):c.1114A>C (p.Thr372Pro)	rs145145045	0.00001
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)	rs764920626	0.00001
NM_000750.5(CHRNB4):c.178C>T (p.Leu60Phe)	rs2141385401
NM_001008212.2(OPTN):c.236A>G (p.Gln79Arg)	rs1452457006
NM_001097577.3(ANG):c.368G>C (p.Gly123Ala)	rs535311762
NM_005235.3(ERBB4):c.3335G>A (p.Arg1112His)	rs770460785
NM_018446.4(GLT8D1):c.393del (p.Lys131fs)	rs1308367710

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.