ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease axonal type 2N by Mendelics

Included ClinVar conditions (3):

Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease axonal type 2N; Developmental and epileptic encephalopathy, 29
Charcot-Marie-Tooth disease axonal type 2N; Developmental and epileptic encephalopathy, 29; Leukoencephalopathy, hereditary diffuse, with spheroids 2; Trichothiodystrophy 8, nonphotosensitive

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)	rs1398433261	0.00001
NM_001605.3(AARS1):c.2192C>G (p.Ser731Trp)	rs150873930
NM_001605.3(AARS1):c.977G>C (p.Arg326Pro)	rs2152160758

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