ClinVar Miner

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

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_170707.4(LMNA):c.1698+83G>A rs555844506 0.00023
NM_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_170707.4(LMNA):c.-138T>C rs886045359 0.00009
NM_170707.4(LMNA):c.1390A>G (p.Met464Val) rs200262654 0.00009
NM_170707.4(LMNA):c.1381-5G>A rs730880133 0.00008
NM_170707.4(LMNA):c.1488+6T>G rs369642101 0.00008
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met) rs765594825 0.00008
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00007
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys) rs755686359 0.00004
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser) rs760388350 0.00004
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) rs765241364 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln) rs58105277 0.00003
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln) rs61177390 0.00003
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.1756G>A (p.Val586Met) rs758048062 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_170707.4(LMNA):c.-109G>T rs886045360 0.00002
NM_170707.4(LMNA):c.-1C>A rs886043355 0.00002
NM_170707.4(LMNA):c.-44T>A rs1185731069 0.00002
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu) rs61693978 0.00002
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) rs373584456 0.00002
NM_170707.4(LMNA):c.1608+10C>T rs748917147 0.00002
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu) rs59601651 0.00002
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter) rs267607544 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln) rs766856162 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys) rs375987939 0.00002
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu) rs745540806 0.00002
NM_170707.4(LMNA):c.986G>A (p.Arg329His) rs397517913 0.00002
NM_005572.3(LMNA):c.-210T>C rs886045356 0.00001
NM_005572.4(LMNA):c.1715G>A (p.Arg572His) rs1158300738 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile) rs587777892 0.00001
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu) rs267607561 0.00001
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys) rs727504852 0.00001
NM_170707.4(LMNA):c.1280G>A (p.Arg427His) rs747139279 0.00001
NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly) rs1651628416 0.00001
NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr) rs748433620 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala) rs876657849 0.00001
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys) rs397517892 0.00001
NM_170707.4(LMNA):c.1364G>A (p.Arg455His) rs267607597 0.00001
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr) rs267607642 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser) rs144740174 0.00001
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys) rs578193315 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg) rs397517898 0.00001
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu) rs899373360 0.00001
NM_170707.4(LMNA):c.1880G>A (p.Arg627His) rs745997478 0.00001
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser) rs951584348 0.00001
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly) rs1441670218 0.00001
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp) rs267607626 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.845G>A (p.Ser282Asn) rs1553265438 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 0.00001
NM_005572.3(LMNA):c.-225C>A rs886045355
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) rs80338938
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.1006C>T (p.Arg336Trp) rs1237093879
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp) rs267607647
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp) rs966050612
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys) rs766811975
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn) rs1385994420
NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg) rs1651629254
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) rs505058
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala) rs886042993
NM_170707.4(LMNA):c.161C>T (p.Thr54Met) rs879253992
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala) rs1651785654
NM_170707.4(LMNA):c.1698+124C>T rs1057516022
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu) rs57830985
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro) rs1553266553
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg) rs1023544978
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln) rs59270054
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu) rs1445068583
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile) rs1306829976
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser) rs1553262000
NM_170707.4(LMNA):c.326T>A (p.Val109Glu) rs1649740041
NM_170707.4(LMNA):c.356+12C>A rs1649747809
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu) rs397517902
NM_170707.4(LMNA):c.610C>G (p.Leu204Val) rs1553265177
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly) rs773349450
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn) rs1553265346
NM_170707.4(LMNA):c.762C>A (p.Asp254Glu) rs1558129629
NM_170707.4(LMNA):c.787C>A (p.Leu263Met) rs750246389
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) rs1651418246
NM_170707.4(LMNA):c.853G>T (p.Val285Leu) rs746056534
NM_170707.4(LMNA):c.878A>T (p.Gln293Leu) rs1651454980
NM_170707.4(LMNA):c.893G>T (p.Arg298Leu) rs762653476
NM_170707.4(LMNA):c.937-3C>A rs756694090
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr) rs769498020
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300

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