ClinVar Miner

List of variants in gene RB1 reported by MutSpliceDB: a database of splice sites variants effects on splicing, NIH

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1215+1G>T rs587776783
NM_000321.3(RB1):c.1389+5G>C rs1131690859
NM_000321.3(RB1):c.1814+2T>A rs1131690899
NM_000321.3(RB1):c.2211+5G>T rs1593538236
NM_000321.3(RB1):c.2325+1G>A rs1131690882
NM_000321.3(RB1):c.2489+1G>C rs764754259

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