ClinVar Miner

List of variants in gene PDSS2 reported as uncertain significance for coenzyme Q10 deficiency, primary, 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs) rs782439454
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile) rs35555197

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