ClinVar Miner

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

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.78C>T (p.Ile26=) rs373721390 0.00003
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu) rs61578124 0.00002
NM_170707.4(LMNA):c.42G>A (p.Ala14=) rs777460187 0.00001
NM_170707.4(LMNA):c.93G>A (p.Glu31=) rs878855235 0.00001
NM_170707.4(LMNA):c.96G>A (p.Lys32=) rs775429079 0.00001
NM_170707.4(LMNA):c.102C>T (p.Asp34=)
NM_170707.4(LMNA):c.103C>T (p.Leu35=)
NM_170707.4(LMNA):c.21G>A (p.Arg7=)
NM_170707.4(LMNA):c.21G>C (p.Arg7=) rs2102816901
NM_170707.4(LMNA):c.24C>A (p.Arg8=) rs1337375663
NM_170707.4(LMNA):c.36C>T (p.Ser12=)
NM_170707.4(LMNA):c.39G>A (p.Gly13=)
NM_170707.4(LMNA):c.66G>A (p.Ser22=)
NM_170707.4(LMNA):c.72C>T (p.Thr24=) rs1572331957
NM_170707.4(LMNA):c.75C>T (p.Arg25=) rs80356804
NM_170707.4(LMNA):c.87G>T (p.Leu29=)
NM_170707.4(LMNA):c.90G>A (p.Gln30=) rs1325971304

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