List of variants studied for mitochondrial DNA depletion syndrome by New York Genome Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)	rs78347903	0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)	rs370814108	0.00006
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)	rs139124415	0.00004
NM_007215.4(POLG2):c.775C>T (p.Arg259Ter)	rs782006396	0.00003
NM_004614.5(TK2):c.441del (p.Tyr148fs)	rs768548319	0.00002
NM_007215.4(POLG2):c.1031G>A (p.Arg344Gln)	rs994126357	0.00001

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