ClinVar Miner

Variants in gene COQ8A with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn) rs147097934
NM_020247.5(COQ8A):c.1800C>G (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709
NM_020247.5(COQ8A):c.67G>A (p.Val23Met) rs35582308
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712

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