ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004589.4(SCO1):c.5C>A (p.Ala2Glu) rs147487151 0.00032
NM_004589.3(SCO1):c.-49C>T rs778522503 0.00006
NM_004589.4(SCO1):c.15C>T (p.Val5=) rs780334801 0.00006
NM_004589.4(SCO1):c.33T>C (p.Val11=) rs780127886 0.00004
NM_004589.4(SCO1):c.140G>A (p.Arg47Gln) rs746265672 0.00003
NM_004589.4(SCO1):c.2T>C (p.Met1Thr) rs371521614 0.00002
NM_004589.4(SCO1):c.29G>T (p.Arg10Leu) rs770075115 0.00001
NM_004589.3(SCO1):c.-53delA rs566330071
NM_004589.4(SCO1):c.153G>T (p.Ala51=) rs2074737981
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004589.4(SCO1):c.16C>T (p.Leu6=) rs61753148

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