ClinVar Miner

List of variants in gene MT-TS1 studied for Mitochondrial complex IV deficiency, nuclear type 1

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-TS1):m.7453G>A rs2068703521
NC_012920.1(MT-TS1):m.7462C>T rs1569484151
NC_012920.1(MT-TS1):m.7471dup rs111033319
NC_012920.1(MT-TS1):m.7497G>A rs387906419
NC_012920.1(MT-TS1):m.7505T>C rs724159989
NC_012920.1(MT-TS1):m.7511T>C rs199474821
NC_012920.1(MT-TS1):m.7512T>C rs199474817

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