List of variants in gene combination POLG, POLGARF reported as uncertain significance for progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.578G>A (p.Arg193Gln)	rs3176162	0.00071
NM_002693.3(POLG):c.678G>C (p.Gln226His)	rs147282197	0.00056
NM_002693.3(POLG):c.328C>T (p.His110Tyr)	rs139599587	0.00026
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)	rs765472726	0.00016
NM_002693.3(POLG):c.460G>A (p.Ala154Thr)	rs753858440	0.00009
NM_002693.3(POLG):c.719C>T (p.Ser240Leu)	rs369175235	0.00008
NM_002693.3(POLG):c.346C>T (p.Pro116Ser)	rs771676521	0.00006
NM_002693.3(POLG):c.331G>C (p.Gly111Arg)	rs760170099	0.00004
NM_002693.3(POLG):c.629C>T (p.Thr210Ile)	rs1450989575	0.00003
NM_002693.3(POLG):c.114G>T (p.Gly38=)	rs794727268	0.00001
NM_002693.3(POLG):c.191C>G (p.Ser64Trp)	rs1397887879	0.00001
NM_002693.3(POLG):c.200G>C (p.Gly67Ala)	rs1399456619	0.00001
NM_002693.3(POLG):c.402C>G (p.Asn134Lys)	rs759939229	0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg)	rs1056580076	0.00001
NM_002693.3(POLG):c.86C>G (p.Ser29Cys)	rs796052895	0.00001
NM_002693.3(POLG):c.88G>A (p.Val30Ile)	rs1321405180	0.00001

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