List of variants in gene combination LMNA, LOC126805877 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: 19

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)	rs60864230	0.00001
NM_170707.4(LMNA):c.475G>T (p.Glu159Ter)	rs267607622	0.00001
NM_170707.4(LMNA):c.357-1G>T	rs267607569
NM_170707.4(LMNA):c.357-2A>G	rs113610699
NM_170707.4(LMNA):c.357-396_434del
NM_170707.4(LMNA):c.364A>T (p.Lys122Ter)
NM_170707.4(LMNA):c.383dup (p.Ala129fs)
NM_170707.4(LMNA):c.391C>T (p.Gln131Ter)	rs1553264593
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)	rs60864230
NM_170707.4(LMNA):c.419T>C (p.Leu140Pro)	rs60652225
NM_170707.4(LMNA):c.422T>C (p.Leu141Pro)	rs2102865805
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro)	rs61661343
NM_170707.4(LMNA):c.431A>C (p.Lys144Thr)
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)	rs58917027
NM_170707.4(LMNA):c.450_451del (p.Ala151fs)
NM_170707.4(LMNA):c.478_479del (p.Gly160fs)
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)	rs28933093
NM_170707.4(LMNA):c.481G>T (p.Glu161Ter)	rs28933093
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)	rs267607570

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