ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome 18 by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_030631.4(SLC25A21):c.71-21_71-20insC rs5807914 0.85706
NM_030631.4(SLC25A21):c.270+15C>T rs10135196 0.22479
NM_030631.4(SLC25A21):c.441A>G (p.Gln147=) rs17105087 0.09352

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