ClinVar Miner

List of variants in gene LMNA reported as pathogenic for Hutchinson-Gilford progeria syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_005572.3(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.3(LMNA):c.1303C>T (p.Arg435Cys) rs150840924
NM_170707.3(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.3(LMNA):c.1579C>T (p.Arg527Cys) rs57318642
NM_170707.3(LMNA):c.1619T>C (p.Met540Thr) rs267607547
NM_170707.3(LMNA):c.1699_1968del270 (p.Gly567_Gln656del) rs1553266460
NM_170707.3(LMNA):c.1771T>A (p.Cys591Ser) rs797044486
NM_170707.3(LMNA):c.1821G>A (p.Val607=) rs59886214
NM_170707.3(LMNA):c.1822G>A (p.Gly608Ser) rs61064130
NM_170707.3(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.3(LMNA):c.1868C>G (p.Thr623Ser) rs59267781
NM_170707.3(LMNA):c.1968+1G>A rs113436208
NM_170707.3(LMNA):c.1968+1G>C rs113436208
NM_170707.3(LMNA):c.1968+2T>A rs113860699
NM_170707.3(LMNA):c.1968+2T>C rs113860699
NM_170707.3(LMNA):c.1968+5G>A rs797044488
NM_170707.3(LMNA):c.1968+5G>C rs797044488
NM_170707.3(LMNA):c.1968G>A (p.Gln656=) rs797044487
NM_170707.3(LMNA):c.433G>A (p.Glu145Lys) rs60310264
NM_170707.3(LMNA):c.667G>A (p.Glu223Lys) rs797044485

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