List of variants reported as not provided for mitochondrial DNA depletion syndrome by GenomeConnect, ClinGen

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_052865.4(MGME1):c.532C>T (p.Arg178Trp)	rs143417446	0.00443
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)	rs147551003	0.00280
NM_003850.3(SUCLA2):c.1270G>A (p.Gly424Arg)	rs144441199	0.00025
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	rs375401970	0.00008
NM_002693.3(POLG):c.2601T>C (p.Pro867=)	rs201749977	0.00006
NM_003848.4(SUCLG2):c.1082A>G (p.Asn361Ser)	rs746196486	0.00004
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	rs140992482	0.00001
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter)	rs774833271
NM_002693.3(POLG):c.260T>C (p.Ile87Thr)	rs776347449
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)	rs2143165387

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