ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2A2 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (7):

Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease type 2A1; Charcot-Marie-Tooth disease, type 2A; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2; Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Charcot-Marie-Tooth disease type 2A2; Multiple symmetric lipomatosis; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A
Charcot-Marie-Tooth disease type 2A2; Neuropathy, hereditary motor and sensory, type 6A

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_014874.4(MFN2):c.445G>A (p.Glu149Lys)	rs754016178	0.00002
NM_014874.4(MFN2):c.1189C>T (p.Arg397Trp)	rs758948968	0.00001
NM_014874.4(MFN2):c.2096T>C (p.Leu699Pro)
NM_014874.4(MFN2):c.2171T>C (p.Leu724Pro)	rs1557537346
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)	rs28940291
NM_014874.4(MFN2):c.281G>T (p.Arg94Leu)
NM_014874.4(MFN2):c.314C>T (p.Thr105Met)	rs863224069
NM_014874.4(MFN2):c.321T>G (p.Asn107Lys)	rs1638897505

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