List of variants in gene LMNA studied for primary osteolysis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 245

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)	rs505058	0.23806
NM_170707.4(LMNA):c.1698C>T (p.His566=)	rs4641	0.20715
NM_170707.4(LMNA):c.357-739T>G	rs513043	0.18886
NM_170707.4(LMNA):c.861T>C (p.Ala287=)	rs538089	0.18331
NM_170707.4(LMNA):c.810+13G>T	rs11264444	0.05317
NM_170707.4(LMNA):c.612G>A (p.Leu204=)	rs12117552	0.00637
NM_170707.4(LMNA):c.811-13T>A	rs80356809	0.00309
NM_005572.3(LMNA):c.-223C>T	rs188625872	0.00284
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)	rs149339264	0.00123
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)	rs142000963	0.00117
NM_170707.4(LMNA):c.1489-16C>G	rs201379016	0.00076
NM_170707.4(LMNA):c.-128T>C	rs80356803	0.00051
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)	rs80356812	0.00029
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.1657G>A (p.Asp553Asn)	rs373671419	0.00016
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)	rs61094188	0.00015
NM_170707.4(LMNA):c.1488+14C>T	rs377700689	0.00013
NM_170707.4(LMNA):c.811-12C>T	rs372962650	0.00012
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)	rs60890628	0.00011
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp)	rs374926367	0.00011
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.976T>A (p.Ser326Thr)	rs56851164	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.1488+7G>A	rs374209100	0.00007
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)	rs267607603	0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)	rs201583907	0.00006
NM_170707.4(LMNA):c.1968+37C>T	rs555070042	0.00006
NM_170707.4(LMNA):c.937-7C>G	rs267607681	0.00006
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)	rs375516745	0.00005
NM_170707.4(LMNA):c.1196G>A (p.Arg399His)	rs267607563	0.00004
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys)	rs755686359	0.00004
NM_170707.4(LMNA):c.1299C>T (p.His433=)	rs61217436	0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)	rs372011095	0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)	rs57520892	0.00004
NM_170707.4(LMNA):c.1664A>G (p.Asp555Gly)	rs141578711	0.00004
NM_170707.4(LMNA):c.1931G>A (p.Arg644His)	rs368386019	0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)	rs397517901	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.1227A>G (p.Thr409=)	rs762130433	0.00003
NM_170707.4(LMNA):c.1256G>A (p.Arg419His)	rs777648901	0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)	rs368542816	0.00003
NM_170707.4(LMNA):c.1380+18G>A	rs777846700	0.00003
NM_170707.4(LMNA):c.1381-13A>G	rs750192865	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.892C>T (p.Arg298Cys)	rs59885338	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.1190G>A (p.Arg397His)	rs747952058	0.00002
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)	rs373584456	0.00002
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)	rs121912493	0.00002
NM_170707.4(LMNA):c.1608+10C>T	rs748917147	0.00002
NM_170707.4(LMNA):c.1698+57G>A	rs557334569	0.00002
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)	rs59601651	0.00002
NM_170707.4(LMNA):c.1857T>C (p.Ser619=)	rs368581237	0.00002
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys)	rs777841827	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.658C>T (p.Arg220Cys)	rs370134870	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.1003C>T (p.Arg335Trp)	rs386134243	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.1045C>T (p.Arg349Trp)	rs267607555	0.00001
NM_170707.4(LMNA):c.1155G>A (p.Glu385=)	rs878855232	0.00001
NM_170707.4(LMNA):c.1157+19G>A	rs757715731	0.00001
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu)	rs267607561	0.00001
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)	rs58672172	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.12G>A (p.Pro4=)	rs369823958	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.1358G>A (p.Arg453Gln)	rs267607598	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.1444C>T (p.Arg482Trp)	rs57920071	0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	rs11575937	0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)	rs200466188	0.00001
NM_170707.4(LMNA):c.153G>T (p.Ser51=)	rs751886390	0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)	rs57318642	0.00001
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)	rs144740174	0.00001
NM_170707.4(LMNA):c.1662G>A (p.Glu554=)	rs201936898	0.00001
NM_170707.4(LMNA):c.1699-9C>T	rs776616872	0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=)	rs776066211	0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)	rs57830985	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.1765G>A (p.Gly589Arg)	rs372201662	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.1867A>G (p.Thr623Ala)	rs757888891	0.00001
NM_170707.4(LMNA):c.1871G>A (p.Arg624His)	rs13768	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.540G>A (p.Lys180=)	rs1437725392	0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)	rs267607626	0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)	rs397517906	0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)	rs397517907	0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=)	rs794728593	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.-88G>T	rs115800510
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)	rs1237093879
NM_170707.4(LMNA):c.1016C>T (p.Ala339Val)	rs756538414
NM_170707.4(LMNA):c.1034T>C (p.Met345Thr)
NM_170707.4(LMNA):c.1046G>A (p.Arg349Gln)
NM_170707.4(LMNA):c.1122C>G (p.His374Gln)
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)	rs61672878
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
NM_170707.4(LMNA):c.11C>A (p.Pro4Gln)	rs267607620
NM_170707.4(LMNA):c.1230G>A (p.Gln410=)	rs1651615685
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.1294C>T (p.Gln432Ter)	rs267607618
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)	rs505058
NM_170707.4(LMNA):c.1380+1G>A	rs267607552
NM_170707.4(LMNA):c.1381-6C>G	rs371635492
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys)	rs1281896947
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.1453C>T (p.Pro485Ser)
NM_170707.4(LMNA):c.1485G>A (p.Val495=)	rs1651703234
NM_170707.4(LMNA):c.1499C>T (p.Ala500Val)
NM_170707.4(LMNA):c.1520G>A (p.Ser507Asn)
NM_170707.4(LMNA):c.1528_1535del (p.Thr510fs)
NM_170707.4(LMNA):c.1529C>T (p.Thr510Ile)	rs879254163
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)	rs41314035
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)	rs1572366516
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)	rs57629361
NM_170707.4(LMNA):c.1585G>A (p.Ala529Thr)	rs121912494
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val)	rs60580541
NM_170707.4(LMNA):c.1608+1G>A	rs267607592
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)	rs267607547
NM_170707.4(LMNA):c.161C>T (p.Thr54Met)	rs879253992
NM_170707.4(LMNA):c.1620G>A (p.Met540Ile)	rs483352811
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	rs61444459
NM_170707.4(LMNA):c.1626G>C (p.Lys542Asn)	rs56673169
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)	rs2102898301
NM_170707.4(LMNA):c.164A>G (p.Glu55Gly)	rs2102817930
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala)	rs1651785654
NM_170707.4(LMNA):c.1659C>T (p.Asp553=)	rs748768783
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)	rs2102817952
NM_170707.4(LMNA):c.1698+124C>T	rs1057516022
NM_170707.4(LMNA):c.1699-1_1706dup
NM_170707.4(LMNA):c.1700_1968+1del	rs1553266460
NM_170707.4(LMNA):c.1712G>A (p.Ser571Asn)	rs1250355311
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)	rs918645468
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)	rs57830985
NM_170707.4(LMNA):c.1771T>A (p.Cys591Ser)	rs797044486
NM_170707.4(LMNA):c.1786_1800del (p.Asp596_Ala600del)	rs2102901580
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.1840G>T (p.Gly614Cys)
NM_170707.4(LMNA):c.1868C>G (p.Thr623Ser)	rs59267781
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro)	rs1553266553
NM_170707.4(LMNA):c.1894A>G (p.Ser632Gly)
NM_170707.4(LMNA):c.1901G>A (p.Gly634Asp)	rs1470825986
NM_170707.4(LMNA):c.190A>G (p.Thr64Ala)
NM_170707.4(LMNA):c.1968+18dup	rs554157057
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.1971C>A (p.Ser657Arg)	rs1023544978
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln)	rs59270054
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys)	rs794728602
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.331G>A (p.Glu111Lys)
NM_170707.4(LMNA):c.356+12C>A	rs1649747809
NM_170707.4(LMNA):c.356+5G>A	rs1572332952
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu)	rs397517902
NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)
NM_170707.4(LMNA):c.5del (p.Glu2fs)
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)	rs61195471
NM_170707.4(LMNA):c.610C>G (p.Leu204Val)	rs1553265177
NM_170707.4(LMNA):c.667G>A (p.Glu223Lys)	rs797044485
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)	rs199474724
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly)	rs773349450
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)	rs267607609
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	rs59332535
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.784G>A (p.Glu262Lys)	rs397517909
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.822del (p.Arg275fs)	rs2102883169
NM_170707.4(LMNA):c.853G>T (p.Val285Leu)	rs746056534
NM_170707.4(LMNA):c.867C>A (p.His289Gln)
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.927C>A (p.Leu309=)	rs752558753
NM_170707.4(LMNA):c.936+2T>C	rs797045011
NM_170707.4(LMNA):c.937-3C>A	rs756694090
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr)	rs769498020
NM_170707.4(LMNA):c.957G>C (p.Lys319Asn)
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)	rs267607554
NM_170707.4(LMNA):c.983C>T (p.Ala328Val)	rs1651545788
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)	rs775159300

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