ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) rs41550117
NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu) rs1553403624
NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu) rs757962437

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