ClinVar Miner

List of variants in gene GATB reported as pathogenic for Combined oxidative phosphorylation deficiency 41

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004564.3(GATB):c.408T>G (p.Phe136Leu)	rs376766195	0.00001
NM_004564.3(GATB):c.580_581del (p.Ser194fs)	rs565910322	0.00001

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