ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease axonal type 2K

Included ClinVar conditions (6):

Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Autosomal dominant Charcot-Marie-Tooth disease type 2K
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)	rs538412810	0.00001
NM_018972.4(GDAP1):c.194A>G (p.Glu65Gly)	rs2131496131
NM_018972.4(GDAP1):c.674GAA[1] (p.Arg226del)	rs1586806238
NM_018972.4(GDAP1):c.716T>C (p.Leu239Pro)
NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu)	rs1586807529
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)	rs397515432

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