ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome 4b by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del) rs754586219 0.00002
NM_002693.3(POLG):c.13C>T (p.Leu5Phe) rs761648850 0.00001

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