ClinVar Miner

List of variants studied for hereditary retinoblastoma by Revvity Omics, Revvity

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.2393G>A (p.Arg798Gln) rs374523971 0.00001
NM_000321.3(RB1):c.2672T>C (p.Leu891Pro)
NM_000321.3(RB1):c.452T>A (p.Leu151Gln) rs2138087581

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