ClinVar Miner

List of variants studied for Hutchinson-Gilford progeria syndrome by GeneReviews

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) rs267607547
NM_170707.4(LMNA):c.1700_1968+1del rs1553266460
NM_170707.4(LMNA):c.1771T>A (p.Cys591Ser) rs797044486
NM_170707.4(LMNA):c.1821G>A (p.Val607=) rs59886214
NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser) rs61064130
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.1868C>G (p.Thr623Ser) rs59267781
NM_170707.4(LMNA):c.1968+1G>A rs113436208
NM_170707.4(LMNA):c.1968+1G>C rs113436208
NM_170707.4(LMNA):c.1968+2T>A rs113860699
NM_170707.4(LMNA):c.1968+2T>C rs113860699
NM_170707.4(LMNA):c.1968+5G>A rs797044488
NM_170707.4(LMNA):c.1968+5G>C rs797044488
NM_170707.4(LMNA):c.1968G>A (p.Gln656=) rs797044487
NM_170707.4(LMNA):c.433G>A (p.Glu145Lys) rs60310264
NM_170707.4(LMNA):c.667G>A (p.Glu223Lys) rs797044485

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.