List of variants in gene LMNA reported as uncertain significance for Emery-Dreifuss muscular dystrophy 2, autosomal dominant

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: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	rs142191737	0.00025
NM_170707.4(LMNA):c.1698+83G>A	rs555844506	0.00023
NM_170707.4(LMNA):c.-138T>C	rs886045359	0.00009
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)	rs397517901	0.00004
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)	rs878855233	0.00003
NM_170707.4(LMNA):c.937-8C>A	rs751707982	0.00003
NM_170707.4(LMNA):c.-44T>A	rs1185731069	0.00002
NM_170707.4(LMNA):c.1698+57G>A	rs557334569	0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=)	rs886045363	0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)	rs886045364	0.00002
NM_005572.3(LMNA):c.-210T>C	rs886045356	0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)	rs749784223	0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)	rs267607598	0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)	rs200466188	0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)	rs267607613	0.00001
NM_170707.4(LMNA):c.514-11C>T	rs886045365	0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)	rs397517907	0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val)	rs1212920276	0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly)	rs775159300	0.00001
NM_005572.3(LMNA):c.-226C>T	rs886045354
NM_170707.4(LMNA):c.1040A>G (p.Glu347Gly)	rs1449688220
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)	rs505058
NM_170707.4(LMNA):c.1412G>C (p.Arg471Pro)	rs267607578
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)	rs11575937
NM_170707.4(LMNA):c.1685T>C (p.Leu562Pro)
NM_170707.4(LMNA):c.356+12C>A	rs1649747809
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)	rs1651418246

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.