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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_004614.5(TK2):c.361C>A (p.His121Asn)	rs137854429	0.00016
NM_004614.5(TK2):c.323C>T (p.Thr108Met)	rs137854431	0.00013
NM_004614.5(TK2):c.268C>T (p.Arg90Cys)	rs281865489	0.00001
NM_004614.5(TK2):c.159C>G (p.Ile53Met)	rs137854432
NM_004614.5(TK2):c.635T>A (p.Ile212Asn)	rs137854430
NM_004614.5(TK2):c.8dup (p.Trp4fs)	rs281865502

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