List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.2071-22T>C	rs2072267	0.56891
NM_002693.3(POLG):c.3483-19T>G	rs2307438	0.44213
NM_002693.3(POLG):c.3105-11T>C	rs2302084	0.32855
NM_002693.3(POLG):c.3105-36A>G	rs2246900	0.31986
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs113994094	0.00159
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	rs121918054	0.00096
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	rs113994095	0.00068
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	rs145843073	0.00063
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)	rs551708243	0.00032
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	rs113994098	0.00028
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)	rs11546842	0.00011
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)	rs181860632	0.00010
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	rs121918044	0.00004
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)	rs121918053	0.00003
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg)	rs796052906	0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)	rs769827124	0.00001
NM_002693.3(POLG):c.3037G>T (p.Asp1013Tyr)	rs1307399071	0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)	rs769410130	0.00001
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)	rs121918049
NM_002693.3(POLG):c.67_88del (p.Gly23fs)	rs2055630470
NM_002693.3(POLG):c.8G>C (p.Arg3Pro)	rs121918045
NM_002693.3:c.2734+39_2734+40insAGGT	rs2152061162

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