ClinVar Miner

List of variants in gene SLC25A26 studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001379210.1(SLC25A26):c.623C>T (p.Thr208Met) rs13874 0.57380
NM_001379210.1(SLC25A26):c.498+13G>A rs332354 0.54714
NM_001379210.1(SLC25A26):c.122G>A (p.Ser41Asn) rs146159281 0.43643
NM_001379210.1(SLC25A26):c.*3C>A rs116677829 0.02088
NM_001379210.1(SLC25A26):c.305C>T (p.Ala102Val) rs869025314 0.00001
NM_001379210.1(SLC25A26):c.33+1G>A rs781798317 0.00001
NM_001379210.1(SLC25A26):c.191-1G>T
NM_001379210.1(SLC25A26):c.443T>G (p.Val148Gly) rs869025313
NM_001379210.1(SLC25A26):c.554G>A (p.Cys185Tyr)
NM_001379210.1(SLC25A26):c.596C>T (p.Pro199Leu) rs869025315
NM_001379210.1(SLC25A26):c.719G>T (p.Gly240Val)

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