ClinVar Miner

List of variants in gene TTC19, ZSWIM7 studied for Mitochondrial complex III deficiency nuclear type 1

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_017775.3(TTC19):c.-347C>A rs60636875 0.03461
NM_017775.3(TTC19):c.-340G>C rs200004394 0.00061
NM_017775.3(TTC19):c.-178C>T rs753100200 0.00015
NM_001042697.2(ZSWIM7):c.74G>A (p.Arg25Gln) rs544159811 0.00005
NM_017775.3(TTC19):c.-169C>G rs73276077

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