ClinVar Miner

List of variants in gene combination POLG, POLGARF reported as uncertain significance for Mitochondrial disease

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3643+48A>G rs2307454 0.01182
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_002693.3(POLG):c.162G>A (p.Gln54=) rs796052878 0.00001
NM_002693.3(POLG):c.3293A>C (p.Asn1098Thr) rs587780421
NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg) rs1567183988

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