ClinVar Miner

List of variants in gene combination LOC112529895, SCO1 reported as uncertain significance for Leigh syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_004589.3(SCO1):c.-49C>T rs778522503
NM_004589.3(SCO1):c.-52delA rs566330071
NM_004589.4(SCO1):c.15C>T (p.Val5=) rs780334801
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004589.4(SCO1):c.16C>T (p.Leu6=)
NM_004589.4(SCO1):c.29G>T (p.Arg10Leu)
NM_004589.4(SCO1):c.2T>C (p.Met1Thr)
NM_004589.4(SCO1):c.33T>C (p.Val11=)
NM_004589.4(SCO1):c.5C>A (p.Ala2Glu) rs147487151

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