ClinVar Miner

List of variants reported as uncertain significance for retinal disorder by Provincial Medical Genetics Program of British Columbia, University of British Columbia

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.1487C>T (p.Pro496Leu) rs371793829 0.00001
NM_001376.5(DYNC1H1):c.9092C>T (p.Thr3031Met) rs879253956

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