ClinVar Miner

List of variants studied for hereditary retinoblastoma by Medgenome Labs Pvt Ltd

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.1050-8_1050-2del rs2138123098
NM_000321.3(RB1):c.1331A>C (p.Gln444Pro) rs2138136810
NM_000321.3(RB1):c.1699T>C (p.Ser567Pro) rs2138326970

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