ClinVar Miner

List of variants in gene POLG reported as pathogenic for Seizures

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Total variants: 9
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HGVS dbSNP
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.3014_3057del44 (p.Val1005Aspfs) rs886041276
NM_002693.2(POLG):c.3104+3A>T
NM_002693.2(POLG):c.409C>T (p.Gln137Ter) rs1057517891
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094

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