ClinVar Miner

List of variants in gene combination COQ6, ENTPD5 reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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NM_182476.3(COQ6):c.1058C>A (p.Ala353Asp) rs397514479
NM_182476.3(COQ6):c.1069del (p.Val357fs) rs1555358729
NM_182476.3(COQ6):c.1235A>G (p.Tyr412Cys) rs374270071
NM_182476.3(COQ6):c.1237G>T (p.Glu413Ter) rs1594816203
NM_182476.3(COQ6):c.1341G>A (p.Trp447Ter) rs1057519351
NM_182476.3(COQ6):c.1383del (p.Ile462fs) rs1057519352
NM_182476.3(COQ6):c.484C>T (p.Arg162Ter) rs189840848
NM_182476.3(COQ6):c.564G>A (p.Trp188Ter) rs1057519349
NM_182476.3(COQ6):c.686A>C (p.Gln229Pro)
NM_182476.3(COQ6):c.763G>A (p.Gly255Arg) rs1057519350
NM_182476.3(COQ6):c.782C>T (p.Pro261Leu) rs371260604

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