ClinVar Miner

List of variants reported as uncertain significance for mitochondrial DNA depletion syndrome 6 (hepatocerebral type) by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile) rs35759430 0.00108
NM_002437.5(MPV17):c.*34G>A rs147885371 0.00088
NM_002437.5(MPV17):c.*12T>G rs201202659 0.00080
NM_002437.5(MPV17):c.*413A>C rs575276701 0.00054
NM_002437.5(MPV17):c.*54C>T rs189632972 0.00046
NM_002437.5(MPV17):c.*72A>C rs768630067 0.00026
NM_002437.5(MPV17):c.*366C>T rs539574166 0.00010
NM_002437.5(MPV17):c.*80C>T rs200529035 0.00009
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.451C>T (p.Leu151Phe) rs745609578 0.00002
NM_002437.5(MPV17):c.*194G>A rs886055895 0.00001
NM_002437.5(MPV17):c.*360G>C rs866206271 0.00001
NM_002437.5(MPV17):c.*367G>A rs997952432 0.00001
NM_002437.5(MPV17):c.-6+8G>A rs886055897 0.00001
NM_002437.5(MPV17):c.390C>G (p.Ala130=) rs760281019 0.00001
NM_002437.5(MPV17):c.*188A>G rs1679355078
NM_002437.5(MPV17):c.*347C>T rs144697795
NM_002437.5(MPV17):c.*351C>T rs1679346714
NM_002437.5(MPV17):c.-11G>C rs886055898
NM_002437.5(MPV17):c.164T>C (p.Val55Ala) rs575558175
NM_002437.5(MPV17):c.223C>G (p.Arg75Gly) rs370061168
NM_002437.5(MPV17):c.291C>T (p.Ala97=) rs1679491926

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