ClinVar Miner

List of variants reported as uncertain significance for mitochondrial DNA depletion syndrome by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_003849.4(SUCLG1):c.443C>T (p.Pro148Leu) rs1331661730
NM_003849.4(SUCLG1):c.512A>G (p.Asn171Ser) rs765519303

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