ClinVar Miner

List of variants in gene SLC25A21 studied for Mitochondrial DNA depletion syndrome 18

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Total variants: 6
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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
NM_030631.4(SLC25A21):c.532C>T (p.Arg178Ter) rs200963388 0.00004
NM_030631.4(SLC25A21):c.43C>T (p.Arg15Trp)
NM_030631.4(SLC25A21):c.695A>G (p.Lys232Arg) rs1389068504

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