List of variants reported for Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002437.5(MPV17):c.263A>T (p.Lys88Met)	rs756530281	0.00004
NM_002437.5(MPV17):c.265A>T (p.Met89Leu)	rs748590375	0.00001
NM_002437.5(MPV17):c.107A>C (p.Gln36Pro)	rs762327729
NM_002437.5(MPV17):c.280-1dup	rs766160589
NM_002437.5(MPV17):c.375G>A (p.Arg125=)	rs1064793178
NM_002437.5(MPV17):c.388G>C (p.Ala130Pro)	rs1382428056

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