ClinVar Miner

List of variants in gene SLC25A46 reported as pathogenic by OMIM

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) rs746681765 0.00003
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp) rs200725073 0.00003
NM_138773.4(SLC25A46):c.166dup (p.His56fs) rs1057519416 0.00001
NM_138773.4(SLC25A46):c.425C>T (p.Thr142Ile) rs1057519296 0.00001
NM_138773.4(SLC25A46):c.691C>T (p.Arg231Ter) rs751101419 0.00001
NM_138773.4(SLC25A46):c.1005A>T (p.Glu335Asp) rs1057518748
NM_138773.4(SLC25A46):c.1022T>C (p.Leu341Pro) rs1057519294
NM_138773.4(SLC25A46):c.326+549_385-1240del
NM_138773.4(SLC25A46):c.413T>G (p.Leu138Arg) rs1057519295
NM_138773.4(SLC25A46):c.42C>G (p.Tyr14Ter) rs771761288
NM_138773.4(SLC25A46):c.462+1G>A rs1799819389
NM_138773.4(SLC25A46):c.479G>C (p.Trp160Ser)
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_138773.4(SLC25A46):c.882_885dup (p.Asn296fs) rs1057518749
NM_138773.4(SLC25A46):c.998C>T (p.Pro333Leu) rs1057518750

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