List of variants studied for laminopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_182914.3(SYNE2):c.10432-17T>G	rs376299946	0.00004
NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp)	rs1205547665	0.00001
NM_182914.3(SYNE2):c.16550A>G (p.Glu5517Gly)	rs765353232	0.00001
NM_182914.3(SYNE2):c.20537C>T (p.Pro6846Leu)	rs1323584158	0.00001
NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His)	rs1026697162	0.00001
NM_002296.4(LBR):c.1639A>G (p.Asn547Asp)	rs587777171
NM_002296.4(LBR):c.166-12C>T
NM_014319.5(LEMD3):c.1700del (p.Asp566_Leu567insTer)	rs1870837900
NM_182914.3(SYNE2):c.18005G>T (p.Arg6002Leu)	rs764566778
NM_182914.3(SYNE2):c.4959C>A (p.Asn1653Lys)	rs2096903791
NM_182914.3(SYNE2):c.5359C>A (p.Gln1787Lys)	rs2096938300

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.