ClinVar Miner

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

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_170707.4(LMNA):c.357-8T>C rs1053291240 0.00005
NM_170707.4(LMNA):c.357-20C>T rs193922724 0.00004
NM_170707.4(LMNA):c.357-13C>A rs1264489096 0.00001
NM_170707.4(LMNA):c.357-19T>C rs757689089 0.00001
NM_170707.4(LMNA):c.366G>A (p.Lys122=) rs1650968214 0.00001
NM_170707.4(LMNA):c.369G>A (p.Lys123=) rs367938270 0.00001
NM_170707.4(LMNA):c.477G>A (p.Glu159=) rs1424758064 0.00001
NM_170707.4(LMNA):c.480C>A (p.Gly160=) rs758848135 0.00001
NM_170707.4(LMNA):c.498G>A (p.Arg166=) rs886043189 0.00001
NM_170707.4(LMNA):c.513+12C>A rs756758566 0.00001
NM_170707.4(LMNA):c.357-18C>G
NM_170707.4(LMNA):c.357-18C>T
NM_170707.4(LMNA):c.357-6C>G
NM_170707.4(LMNA):c.357-9C>T rs1186195332
NM_170707.4(LMNA):c.372G>A (p.Glu124=) rs1572352924
NM_170707.4(LMNA):c.375T>C (p.Gly125=) rs1164862537
NM_170707.4(LMNA):c.378C>T (p.Asp126=)
NM_170707.4(LMNA):c.379C>T (p.Leu127=) rs1428192739
NM_170707.4(LMNA):c.381G>C (p.Leu127=)
NM_170707.4(LMNA):c.384A>T (p.Ile128=)
NM_170707.4(LMNA):c.393G>A (p.Gln131=)
NM_170707.4(LMNA):c.409C>T (p.Leu137=)
NM_170707.4(LMNA):c.423G>A (p.Leu141=) rs2102865822
NM_170707.4(LMNA):c.435G>A (p.Glu145=) rs1228858436
NM_170707.4(LMNA):c.441A>T (p.Ala147=)
NM_170707.4(LMNA):c.472C>T (p.Leu158=) rs2102866147
NM_170707.4(LMNA):c.495G>T (p.Leu165=) rs2102866374
NM_170707.4(LMNA):c.496C>A (p.Arg166=) rs370200334
NM_170707.4(LMNA):c.504G>A (p.Gln168=)
NM_170707.4(LMNA):c.513+11C>A rs1331483345
NM_170707.4(LMNA):c.513+11C>T
NM_170707.4(LMNA):c.513+18G>A
NM_170707.4(LMNA):c.513+19G>T
NM_170707.4(LMNA):c.513+20C>T
NM_170707.4(LMNA):c.513+45T>C
NM_170707.4(LMNA):c.513+6_513+20dup
NM_170707.4(LMNA):c.513+8C>T rs1060504515

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