ClinVar Miner

Variants in gene RB1 with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.3(RB1):c.2106+2T>C rs1566235515
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293

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