ClinVar Miner

List of variants in gene LMNA reported as pathogenic for Familial partial lipodystrophy 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_005572.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.3(LMNA):c.1961dupG (p.Thr655Asnfs) rs863225024
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp) rs61282106
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn) rs59981161
NM_170707.4(LMNA):c.1488+5G>C rs267607543
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) rs57520892
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) rs57830985
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly) rs28928900
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) rs56793579
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) rs60864230
NM_170707.4(LMNA):c.688G>A (p.Asp230Asn) rs61214927

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.