ClinVar Miner

List of variants in gene LMNA studied for Hutchinson-Gilford progeria syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP
NM_005572.3(LMNA):c.-210T>C rs886045356
NM_005572.3(LMNA):c.-225C>A rs886045355
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_170707.4(LMNA):c.-109G>T rs886045360
NM_170707.4(LMNA):c.-128T>C rs80356803
NM_170707.4(LMNA):c.-138T>C rs886045359
NM_170707.4(LMNA):c.-142C>A rs886045358
NM_170707.4(LMNA):c.-183C>A rs886045357
NM_170707.4(LMNA):c.-5C>A rs886045362
NM_170707.4(LMNA):c.-62C>A rs886045361
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.1381-5G>A rs730880133
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys) rs1281896947
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) rs267607547
NM_170707.4(LMNA):c.1698+124C>T rs1057516022
NM_170707.4(LMNA):c.1698+57G>A rs557334569
NM_170707.4(LMNA):c.1700_1968+1del rs1553266460
NM_170707.4(LMNA):c.1756G>A (p.Val586Met) rs758048062
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.1969-2A>T
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364
NM_170707.4(LMNA):c.357-739T>G rs513043
NM_170707.4(LMNA):c.433G>A (p.Glu145Lys) rs60310264
NM_170707.4(LMNA):c.514-11C>T rs886045365
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.4(LMNA):c.667G>A (p.Glu223Lys) rs797044485
NM_170707.4(LMNA):c.810+13G>T rs11264444
NM_170707.4(LMNA):c.811-13T>A rs80356809
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338
NM_170707.4(LMNA):c.936+12C>T rs199881992
NM_170707.4(LMNA):c.936+2T>C rs797045011
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300

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