List of variants in gene LMNA reported as pathogenic for mandibuloacral dysplasia with type A lipodystrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)	rs57520892	0.00004
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	rs267607555	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.1579C>T (p.Arg527Cys)	rs57318642	0.00001
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.1620G>A (p.Met540Ile)	rs483352811
NM_170707.4(LMNA):c.1626G>C (p.Lys542Asn)	rs56673169
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	rs59332535
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)	rs267607554

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