ClinVar Miner

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

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_138773.3(SLC25A46):c.1137G>T (p.Glu379Asp) rs79149180
NM_138773.3(SLC25A46):c.147C>T (p.Ile49=) rs145421520
NM_138773.3(SLC25A46):c.378A>G (p.Gln126=) rs151055603
NM_138773.3(SLC25A46):c.429C>T (p.Val143=) rs35220834
NM_138773.3(SLC25A46):c.563+6A>T rs114546039
NM_138773.3(SLC25A46):c.630C>T (p.Tyr210=) rs201039547

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