List of variants in gene combination LMNA, LOC129931597 reported as uncertain significance 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: 25

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.20G>A (p.Arg7Gln)	rs751916168	0.00001
NM_170707.4(LMNA):c.23G>A (p.Arg8His)	rs1329278578	0.00001
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)	rs1016767319	0.00001
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile)	rs1195524446	0.00001
NM_170707.4(LMNA):c.19C>T (p.Arg7Trp)	rs1397676761
NM_170707.4(LMNA):c.22C>A (p.Arg8Ser)
NM_170707.4(LMNA):c.22C>G (p.Arg8Gly)	rs1649697783
NM_170707.4(LMNA):c.22C>T (p.Arg8Cys)	rs1649697783
NM_170707.4(LMNA):c.25G>A (p.Ala9Thr)
NM_170707.4(LMNA):c.25G>C (p.Ala9Pro)
NM_170707.4(LMNA):c.31C>T (p.Arg11Cys)
NM_170707.4(LMNA):c.32G>T (p.Arg11Leu)	rs1649700040
NM_170707.4(LMNA):c.40G>A (p.Ala14Thr)
NM_170707.4(LMNA):c.44A>C (p.Gln15Pro)	rs748918487
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp)	rs770799870
NM_170707.4(LMNA):c.47C>T (p.Ala16Val)
NM_170707.4(LMNA):c.55A>T (p.Thr19Ser)
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)	rs1553261858
NM_170707.4(LMNA):c.62T>C (p.Leu21Pro)	rs1649704361
NM_170707.4(LMNA):c.71C>G (p.Thr24Ser)	rs1195524446
NM_170707.4(LMNA):c.76A>G (p.Ile26Val)
NM_170707.4(LMNA):c.80C>G (p.Thr27Ser)	rs863225270
NM_170707.4(LMNA):c.88C>G (p.Gln30Glu)	rs2102817413
NM_170707.4(LMNA):c.91_92delinsAG (p.Glu31Arg)	rs2102817441
NM_170707.4(LMNA):c.97G>C (p.Glu33Gln)

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