ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847 0.01456
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
NM_001151.4(SLC25A4):c.238C>G (p.Arg80Gly) rs1560841701
NM_001278716.2(FBXL4):c.1709_1710dup (p.Met571fs)
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)

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