List of variants reported as uncertain significance for Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002437.5(MPV17):c.*34G>A	rs147885371	0.00088
NM_002437.5(MPV17):c.*413A>C	rs575276701	0.00054
NM_002437.5(MPV17):c.373C>T (p.Arg125Trp)	rs112170670	0.00007
NM_002437.5(MPV17):c.*130G>T	rs886055896	0.00004
NM_002437.5(MPV17):c.20A>G (p.Tyr7Cys)	rs367838807	0.00003
NM_002437.5(MPV17):c.*360G>C	rs866206271	0.00001
NM_002437.5(MPV17):c.-6+8G>A	rs886055897	0.00001
NM_002437.5(MPV17):c.196G>T (p.Val66Leu)	rs863224073	0.00001
NM_002437.5(MPV17):c.*347C>T	rs144697795
NM_002437.5(MPV17):c.-11G>C	rs886055898
NM_002437.5(MPV17):c.74C>A (p.Ser25Tyr)	rs1679522385
NM_003201.3(TFAM):c.291+9A>G
NM_003201.3(TFAM):c.313G>A (p.Ala105Thr)

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