ClinVar Miner

List of variants in gene SCO1 studied for Leigh syndrome

Included ClinVar conditions (11):
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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_004589.4(SCO1):c.*722C>G rs7512 0.46449
NM_004589.4(SCO1):c.*310C>T rs2662957 0.04323
NM_004589.4(SCO1):c.*272T>C rs2662956 0.04198
NM_004589.4(SCO1):c.594A>G (p.Pro198=) rs2271228 0.04192
NM_004589.4(SCO1):c.297A>G (p.Ala99=) rs11538237 0.01326
NM_004589.4(SCO1):c.*81A>G rs140538532 0.00063
NM_004589.4(SCO1):c.868A>G (p.Ile290Val) rs139771078 0.00058
NM_004589.4(SCO1):c.*326C>T rs959024756 0.00022
NM_004589.4(SCO1):c.*349C>G rs151279533 0.00016
NM_004589.4(SCO1):c.411G>A (p.Gly137=) rs371690301 0.00008
NM_004589.4(SCO1):c.787A>G (p.Ile263Val) rs111708860 0.00008
NM_004589.4(SCO1):c.689C>T (p.Thr230Met) rs141066877 0.00007
NM_004589.4(SCO1):c.*594A>G rs183020275 0.00006
NM_004589.4(SCO1):c.640G>A (p.Ala214Thr) rs145764824 0.00005
NM_004589.4(SCO1):c.*61A>C rs886052594 0.00004
NM_004589.4(SCO1):c.*731A>G rs1019914508 0.00004
NM_004589.4(SCO1):c.259C>T (p.Pro87Ser) rs757958481 0.00004
NM_004589.4(SCO1):c.579G>T (p.Leu193=) rs376145746 0.00004
NM_004589.4(SCO1):c.*80A>G rs1338702106 0.00003
NM_004589.4(SCO1):c.304T>G (p.Phe102Val) rs539094737 0.00002
NM_004589.4(SCO1):c.771+3G>C rs376237477 0.00002
NM_004589.4(SCO1):c.*127A>G rs779082082 0.00001
NM_004589.4(SCO1):c.*526T>C rs2074615394 0.00001
NM_004589.4(SCO1):c.673G>A (p.Val225Ile) rs886052595 0.00001
NM_004589.4(SCO1):c.724A>C (p.Arg242=) rs761217696 0.00001
NM_004589.4(SCO1):c.*270T>A rs76465133
NM_004589.4(SCO1):c.*285C>T rs886052593
NM_004589.4(SCO1):c.*320= rs2040570
NM_004589.4(SCO1):c.*403A>G rs886052592
NM_004589.4(SCO1):c.*601del rs886052591
NM_004589.4(SCO1):c.224C>T (p.Pro75Leu) rs370147170
NM_004589.4(SCO1):c.273G>A (p.Gly91=) rs886052596
NM_004589.4(SCO1):c.393C>T (p.Ile131=) rs778406995
NM_004589.4(SCO1):c.433C>T (p.His145Tyr) rs2074698464
NM_004589.4(SCO1):c.798G>C (p.Leu266Phe) rs1397651609

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