List of variants reported as likely pathogenic for Mitochondrial DNA depletion syndrome, myopathic form

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004614.5(TK2):c.441del (p.Tyr148fs)	rs768548319	0.00002
NM_004614.5(TK2):c.310C>T (p.Arg104Cys)	rs1194187379	0.00001
NM_004614.5(TK2):c.338T>A (p.Val113Glu)	rs746707855	0.00001
NM_004614.5(TK2):c.497A>T (p.Asp166Val)	rs921593414	0.00001
NM_004614.5(TK2):c.659T>C (p.Leu220Pro)	rs1168827071	0.00001
NM_004614.5(TK2):c.169G>A (p.Gly57Ser)	rs749123392
NM_004614.5(TK2):c.402G>T (p.Arg134Ser)
NM_004614.5(TK2):c.604_606del (p.Lys202del)	rs281865501
NM_004614.5(TK2):c.655T>C (p.Trp219Arg)	rs748655443

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