ClinVar Miner

List of variants reported as benign for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_007215.4(POLG2):c.-81T>C rs9897606 0.29384
NM_007215.4(POLG2):c.505G>A (p.Ala169Thr) rs1427463 0.29359
NM_007215.4(POLG2):c.1269C>T (p.Ser423=) rs61733782 0.08470
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455 0.01048
NM_007215.4(POLG2):c.397C>T (p.His133Tyr) rs112984118 0.00371
NM_007215.4(POLG2):c.457C>G (p.Leu153Val) rs149446102 0.00023
NM_007215.4(POLG2):c.181G>A (p.Gly61Arg) rs144148008 0.00011
NM_007215.4(POLG2):c.-70T>C rs138418765 0.00005
NM_007215.4(POLG2):c.-61G>A rs552693721

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