ClinVar Miner

List of variants in gene POLG studied for Cerebellar ataxia infantile with progressive external ophthalmoplegia

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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.2419C>T (p.Arg807Cys) rs769827124
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.2557C>T (p.Arg853Trp) rs121918053
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.8G>C (p.Arg3Pro) rs121918045
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044

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