ClinVar Miner

List of variants in gene SLC25A46 reported as pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (134):
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Total variants: 12
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HGVS dbSNP
NC_000005.9:g.(?_110079421)_(110079498_?)del
NM_138773.4(SLC25A46):c.1005A>T (p.Glu335Asp) rs1057518748
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) rs746681765
NM_138773.4(SLC25A46):c.1022T>C (p.Leu341Pro) rs1057519294
NM_138773.4(SLC25A46):c.166dup (p.His56fs) rs1057519416
NM_138773.4(SLC25A46):c.413T>G (p.Leu138Arg) rs1057519295
NM_138773.4(SLC25A46):c.425C>T (p.Thr142Ile) rs1057519296
NM_138773.4(SLC25A46):c.47del (p.Gly16fs)
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp) rs200725073
NM_138773.4(SLC25A46):c.882_885dup (p.Asn296fs) rs1057518749
NM_138773.4(SLC25A46):c.998C>T (p.Pro333Leu) rs1057518750
SCL25A46, 1.897-KB DEL

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