ClinVar Miner

List of variants reported as uncertain significance for combined oxidative phosphorylation defect type 21 by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp) rs146503501 0.00028
NM_025150.5(TARS2):c.1207G>A (p.Ala403Thr) rs587685186 0.00002
NM_025150.5(TARS2):c.736C>T (p.Arg246Trp) rs763015481
NM_025150.5(TARS2):c.887A>G (p.Glu296Gly) rs1669673209

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