List of variants in gene combination LMNA, LOC129931597 reported as pathogenic for Charcot-Marie-Tooth disease type 2

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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: 18

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HGVS	dbSNP	gnomAD frequency
NC_000001.11:g.(?_156114909)_(156115284_?)del
NM_170707.4(LMNA):c.40del (p.Ala14fs)	rs2527829451
NM_170707.4(LMNA):c.43C>T (p.Gln15Ter)	rs2102817088
NM_170707.4(LMNA):c.52_53dup (p.Thr19fs)	rs1553261855
NM_170707.4(LMNA):c.70_71insGCCGGGTGCGCTGTCGCCCA (p.Thr24fs)	rs2527829950
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly)	rs58327533
NM_170707.4(LMNA):c.73del (p.Arg25fs)	rs1558115970
NM_170707.4(LMNA):c.82C>T (p.Arg28Trp)	rs59914820
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)	rs886043109
NM_170707.4(LMNA):c.91G>A (p.Glu31Lys)	rs1228406418
NM_170707.4(LMNA):c.91_93del (p.Glu31del)	rs864309525
NM_170707.4(LMNA):c.92A>G (p.Glu31Gly)	rs1649709575
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)	rs1553261891
NM_170707.4(LMNA):c.94A>T (p.Lys32Ter)	rs1553261891
NM_170707.4(LMNA):c.94_96del (p.Lys32del)	rs60872029
NM_170707.4(LMNA):c.96GGA[1] (p.Glu33del)	rs2527830705
NM_170707.4(LMNA):c.98A>G (p.Glu33Gly)	rs267607614
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)	rs57966821

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