ClinVar Miner

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

Included ClinVar conditions (137):
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_138773.4(SLC25A46):c.1101G>A (p.Glu367=) rs768641525
NM_138773.4(SLC25A46):c.1134G>A (p.Gln378=) rs1164068029
NM_138773.4(SLC25A46):c.1248T>C (p.Asn416=) rs776771749
NM_138773.4(SLC25A46):c.219C>T (p.Tyr73=) rs755840361
NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys) rs200566665
NM_138773.4(SLC25A46):c.278G>A (p.Ser93Asn) rs73230112
NM_138773.4(SLC25A46):c.385-4A>G rs377289513
NM_138773.4(SLC25A46):c.416C>A (p.Thr139Asn) rs202123515
NM_138773.4(SLC25A46):c.52G>T (p.Ala18Ser) rs191332512
NM_138773.4(SLC25A46):c.558G>A (p.Leu186=) rs200143217
NM_138773.4(SLC25A46):c.631G>A (p.Val211Met) rs114859074
NM_138773.4(SLC25A46):c.742A>C (p.Ile248Leu) rs149585060
NM_138773.4(SLC25A46):c.780G>A (p.Pro260=) rs766154121
NM_138773.4(SLC25A46):c.81C>T (p.Ala27=) rs1323118441
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup) rs374899270

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