List of variants in gene LMNA reported as likely pathogenic by Ambry Genetics

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: 21

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1608+5G>A	rs267607539	0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)	rs57830985	0.00001
NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)	rs267607560	0.00001
NM_170707.4(LMNA):c.640-10A>G	rs80356807	0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)	rs397517906	0.00001
NM_170707.4(LMNA):c.1004_1005inv (p.Arg335Pro)
NM_170707.4(LMNA):c.1142_1157+1del	rs1553265755
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)	rs57508089
NM_170707.4(LMNA):c.1381-1G>A
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)	rs28928902
NM_170707.4(LMNA):c.1489-2A>G	rs879254081
NM_170707.4(LMNA):c.1608+2T>G	rs2102896324
NM_170707.4(LMNA):c.1609-3C>G	rs267607581
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	rs61444459
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)	rs918645468
NM_170707.4(LMNA):c.639+1G>T	rs869125101
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)	rs61295588
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del)	rs58978449
NM_170707.4(LMNA):c.799T>C (p.Tyr267His)	rs267607593
NM_170707.4(LMNA):c.937-1G>A	rs1553265606
NM_170707.4(LMNA):c.937-2A>G

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