ClinVar Miner

List of variants studied for hereditary retinoblastoma by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1039dup (p.Ser347fs)
NM_000321.3(RB1):c.1212del (p.Phe404fs)
NM_000321.3(RB1):c.13del (p.Thr5fs)

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