ClinVar Miner

List of variants in gene POLG reported by GeneReviews

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Total variants: 17
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HGVS dbSNP
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) rs2307447
NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) rs2307450
NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.2(POLG):c.3424C>T (p.Arg1142Trp) rs2307442
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.2(POLG):c.3488T>G (p.Met1163Arg) rs113994100
NM_002693.2(POLG):c.3630dup (p.Gly1211fs) rs113994101
NM_002693.2(POLG):c.52C>T (p.Pro18Ser) rs3087373
NM_002693.2(POLG):c.578G>A (p.Arg193Gln) rs3176162
NM_002693.2(POLG):c.695G>A (p.Arg232His) rs113994093
NM_002693.2(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095

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