ClinVar Miner

List of variants in gene RB1 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000321.3(RB1):c.1039dup (p.Ser347fs)
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)	rs121913301
NM_000321.3(RB1):c.1212del (p.Phe404fs)
NM_000321.3(RB1):c.13del (p.Thr5fs)

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