List of variants reported as uncertain significance for mitochondrial DNA depletion syndrome by 3billion

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001080449.3(DNA2):c.411G>C (p.Met137Ile)	rs760968251	0.00001
NM_015713.5(RRM2B):c.97C>T (p.Pro33Ser)	rs387906892	0.00001
NM_001953.5(TYMP):c.1187C>T (p.Pro396Leu)
NM_002437.5(MPV17):c.281G>A (p.Gly94Glu)	rs2148215671
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg)	rs796052913
NM_003849.4(SUCLG1):c.443C>T (p.Pro148Leu)	rs1331661730
NM_003850.3(SUCLA2):c.370T>C (p.Ser124Pro)	rs2137743400
NM_021830.5(TWNK):c.1287C>T (p.Ala429=)	rs80356541
NM_130837.3(OPA1):c.2552AGA[1] (p.Lys852del)	rs1218413866

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