List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_080916.3(DGUOK):c.*13A>T	rs4777	0.57593
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)	rs74874677	0.01472
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)	rs144181978	0.00021
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser)	rs763615602	0.00004
NM_080916.3(DGUOK):c.444-11C>G	rs536746349	0.00003
NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys)	rs762550967
NM_080916.3(DGUOK):c.14G>A (p.Arg5His)
NM_080916.3(DGUOK):c.155C>G (p.Ser52Cys)	rs1204316787
NM_080916.3(DGUOK):c.186C>A (p.Tyr62Ter)	rs879255617
NM_080916.3(DGUOK):c.605_606del (p.Arg202fs)	rs863223949
NM_080916.3(DGUOK):c.789AGA[1] (p.Glu264del)	rs1396335431

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