List of variants in gene combination LMNA, LOC126805877 reported as likely pathogenic for Charcot-Marie-Tooth disease type 2

Minimum submission review status:		Collection method:
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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)	rs267607570	0.00005
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)	rs58917027	0.00001
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)	rs370200334	0.00001
NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del)	rs794728597
NM_170707.4(LMNA):c.397C>G (p.Arg133Gly)
NM_170707.4(LMNA):c.397C>T (p.Arg133Trp)
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)	rs60864230
NM_170707.4(LMNA):c.436G>A (p.Ala146Thr)	rs397517903
NM_170707.4(LMNA):c.513+1G>A	rs397517904
NM_170707.4(LMNA):c.513+1G>C	rs397517904
NM_170707.4(LMNA):c.513+2T>C	rs1553264668
NM_170707.4(LMNA):c.513+2T>G	rs1553264668
NM_170707.4(LMNA):c.513G>A (p.Lys171=)	rs267607542

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