ClinVar Miner

List of variants in gene POLG studied for Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1 (MNGIE type); Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type

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Total variants: 27
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HGVS dbSNP
NM_002693.2(POLG):c.1174C>G (p.Leu392Val) rs145289229
NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.2(POLG):c.1328G>A (p.Arg443His) rs796052903
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.1570C>G (p.Pro524Ala) rs577476988
NM_002693.2(POLG):c.1882C>T (p.Arg628Trp) rs754245040
NM_002693.2(POLG):c.2027C>T (p.Ala676Val) rs376306906
NM_002693.2(POLG):c.2059A>G (p.Ile687Val) rs796052881
NM_002693.2(POLG):c.2069C>T (p.Thr690Met)
NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) rs776848222
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
NM_002693.2(POLG):c.2468G>A (p.Arg823His) rs751172552
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.2554C>T rs144500145
NM_002693.2(POLG):c.3076C>T (p.Arg1026Cys) rs760043525
NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) rs551708243
NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) rs150233690
NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) rs201192905
NM_002693.2(POLG):c.3204C>G (p.Asp1068Glu) rs1057523186
NM_002693.2(POLG):c.3286C>T (p.Arg1096Cys) rs201732356
NM_002693.2(POLG):c.32G>A rs765472726
NM_002693.2(POLG):c.3317T>C (p.Val1106Ala) rs1354582663
NM_002693.2(POLG):c.3425G>A (p.Arg1142Gln) rs536732038
NM_002693.2(POLG):c.3505G>A (p.Gly1169Ser) rs753864625
NM_002693.2(POLG):c.729C>A (p.Asp243Glu) rs757917194
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044

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