List of variants in gene LMNA studied for Emery-Dreifuss muscular dystrophy 2, autosomal dominant

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: 69

Download table as spreadsheet

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.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.-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.1488+14C>T	rs377700689	0.00013
NM_170707.4(LMNA):c.-138T>C	rs886045359	0.00009
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)	rs267607603	0.00006
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)	rs375516745	0.00005
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)	rs397517901	0.00004
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)	rs762130433	0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)	rs368542816	0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)	rs878855233	0.00003
NM_170707.4(LMNA):c.937-8C>A	rs751707982	0.00003
NM_170707.4(LMNA):c.-44T>A	rs1185731069	0.00002
NM_170707.4(LMNA):c.1698+57G>A	rs557334569	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_005572.3(LMNA):c.-210T>C	rs886045356	0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)	rs749784223	0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)	rs267607598	0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)	rs200466188	0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)	rs267607613	0.00001
NM_170707.4(LMNA):c.514-11C>T	rs886045365	0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)	rs60682848	0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)	rs397517907	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.-226C>T	rs886045354
NM_170707.4(LMNA):c.-88G>T	rs115800510
NM_170707.4(LMNA):c.1040A>G (p.Glu347Gly)	rs1449688220
NM_170707.4(LMNA):c.1068_1075dup (p.Tyr359fs)
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)	rs60458016
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)	rs61672878
NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del)	rs1553265761
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)	rs505058
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)	rs58436778
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	rs58932704
NM_170707.4(LMNA):c.1381-2A>C
NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)	rs1553265999
NM_170707.4(LMNA):c.1412G>C (p.Arg471Pro)	rs267607578
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)	rs11575937
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)	rs56699480
NM_170707.4(LMNA):c.1549_1550del (p.Gln517fs)
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)	rs41314035
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)	rs57520892
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)	rs57629361
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val)	rs60580541
NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro)	rs60934003
NM_170707.4(LMNA):c.1608+5G>C	rs267607539
NM_170707.4(LMNA):c.1685T>C (p.Leu562Pro)
NM_170707.4(LMNA):c.305T>C (p.Leu102Pro)	rs1553262007
NM_170707.4(LMNA):c.356+12C>A	rs1649747809
NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del)	rs267607540
NM_170707.4(LMNA):c.664C>T (p.His222Tyr)	rs28928901
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)	rs199474724
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)	rs57207746
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)	rs121912496
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	rs59332535
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)	rs58048078
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)	rs1651418246
NM_170707.4(LMNA):c.960del (p.Arg321fs)	rs56771886

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.