List of variants reported as pathogenic for mitochondrial DNA depletion syndrome 9 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_003849.4(SUCLG1):c.460C>T (p.Arg154Ter)	rs369153479	0.00001
NM_003849.4(SUCLG1):c.814C>T (p.Gln272Ter)	rs1246050542	0.00001
NC_000002.11:g.(?_84650850)_(84686413_?)del
NM_003849.4(SUCLG1):c.169_170del (p.Lys57fs)	rs1672907018
NM_003849.4(SUCLG1):c.40A>T (p.Met14Leu)	rs796052053
NM_003849.4(SUCLG1):c.445C>T (p.Gln149Ter)
NM_003849.4(SUCLG1):c.626C>A (p.Ala209Glu)
NM_003849.4(SUCLG1):c.835del (p.Ser279fs)

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