ClinVar Miner

List of variants studied for retinal cell cancer by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1961-1G>T rs1949383286
NM_000321.3(RB1):c.2246_2247del (p.Glu748_Tyr749insTer) rs1949430616
NM_000321.3(RB1):c.597_601dup (p.Ala201delinsAspTer) rs1555283670
NM_000321.3(RB1):c.607+1G>T rs587776789
NM_000321.3(RB1):c.719-2A>T rs1952654925

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