ClinVar Miner

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

Included ClinVar conditions (134):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NC_000005.9:g.(?_110077728)_(110083984_?)dup
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln) rs1184021143
NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu)
NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro)

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