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
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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

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