List of variants studied for mitochondrial DNA depletion syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	rs61752783	0.00516
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)	rs61752784	0.00364
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)	rs147407423	0.00166
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	rs121918054	0.00096
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	rs145843073	0.00063
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	rs113994098	0.00028
NM_002693.3(POLG):c.328C>T (p.His110Tyr)	rs139599587	0.00026
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)	rs139469785	0.00024
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)	rs200257554	0.00017
NM_002693.3(POLG):c.3075G>A (p.Leu1025=)	rs146404260	0.00008
NM_002693.3(POLG):c.331G>C (p.Gly111Arg)	rs760170099	0.00004
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)	rs765949668	0.00001
NM_002693.3(POLG):c.862C>T (p.Arg288Cys)	rs564582352	0.00001
NM_002693.3(POLG):c.2466C>G (p.Pro822=)	rs1235161601
NM_002693.3(POLG):c.3482+6C>T	rs55779802

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