ClinVar Miner

List of variants in gene POLG reported as benign for Mitochondrial disease

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1250+188A>G rs3176174 0.57671
NM_002693.3(POLG):c.3483-164A>C rs3176231 0.01667
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys) rs2307447 0.00542
NM_002693.3(POLG):c.3483-41A>C rs2307436

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