ClinVar Miner

List of variants in gene POLG studied for Progressive sclerosing poliodystrophy; 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: 13
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HGVS dbSNP
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) rs200257554
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2466C>G (p.Pro822=) rs1235161601
NM_002693.2(POLG):c.2601T>C (p.Pro867=) rs201749977
NM_002693.2(POLG):c.260T>C (p.Ile87Thr)
NM_002693.2(POLG):c.3075G>A (p.Leu1025=) rs146404260
NM_002693.2(POLG):c.328C>T (p.His110Tyr) rs139599587
NM_002693.2(POLG):c.3323A>T (p.Tyr1108Phe) rs765949668
NM_002693.2(POLG):c.3482+6C>T rs55779802
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.862C>T (p.Arg288Cys) rs564582352

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