ClinVar Miner

List of variants in gene combination COQ9, LOC112469007 reported as uncertain significance for coenzyme Q10 deficiency

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020312.4(COQ9):c.-25C>G rs547268811 0.00217
NM_020312.4(COQ9):c.-27G>C rs538493869 0.00111
NM_020312.4(COQ9):c.71C>T (p.Pro24Leu) rs578214371 0.00052
NM_020312.3(COQ9):c.-37C>G rs886052178 0.00010
NM_020312.4(COQ9):c.20C>T (p.Ser7Phe) rs1198499357 0.00004
NM_020312.4(COQ9):c.-25C>T rs547268811
NM_020312.4(COQ9):c.73+9del rs749532852

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