ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1773A>C (p.Ala591=) rs78767626 0.03184
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg) rs142347031 0.00001
NM_001953.4(TYMP):c.929-6_929-3del rs201685922

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