List of variants in gene LMNA reported as likely pathogenic for hereditary skeletal muscle disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)	rs121912493	0.00002
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)	rs59601651	0.00002
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	rs386134243	0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)	rs150840924	0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)	rs57318642	0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)	rs57830985	0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)	rs397517906	0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=)	rs794728593	0.00001
NM_170707.4(LMNA):c.1068_1075dup (p.Tyr359fs)
NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del)	rs1553265761
NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro)	rs267607576
NM_170707.4(LMNA):c.130G>T (p.Val44Phe)	rs1057518971
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>G	rs267607600
NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)	rs1553265999
NM_170707.4(LMNA):c.139G>A (p.Asp47Asn)	rs267607608
NM_170707.4(LMNA):c.1560G>C (p.Trp520Cys)
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.1622G>C (p.Arg541Pro)	rs61444459
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)	rs2102898301
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)	rs2102817952
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)	rs918645468
NM_170707.4(LMNA):c.215G>C (p.Arg72Pro)
NM_170707.4(LMNA):c.305T>C (p.Leu102Pro)	rs1553262007
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.790_792del (p.Glu264del)	rs1553265369
NM_170707.4(LMNA):c.822del (p.Arg275fs)	rs2102883169
NM_170707.4(LMNA):c.937-22_937-10del	rs886043199

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.