ClinVar Miner

List of variants in gene POLG reported as pathogenic by OMIM

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Total variants: 21
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HGVS dbSNP
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.2(POLG):c.1532G>A (p.Ser511Asn) rs121918055
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.1879C>T (p.Arg627Trp) rs121918046
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.2557C>T (p.Arg853Trp) rs121918053
NM_002693.2(POLG):c.2591A>G (p.Asn864Ser) rs121918050
NM_002693.2(POLG):c.2617G>T (p.Glu873Ter) rs121918047
NM_002693.2(POLG):c.2794C>T (p.His932Tyr) rs121918048
NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.2(POLG):c.2869G>T (p.Ala957Ser) rs121918051
NM_002693.2(POLG):c.3057G>A (p.Trp1019Ter) rs1567185775
NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.2(POLG):c.3218C>T (p.Pro1073Leu) rs267606959
NM_002693.2(POLG):c.679C>T (p.Arg227Trp) rs121918056
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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