ClinVar

• RB transcriptional corepressor 1 (RB1)

  [Gene - OMIM - Variation Viewer]
  • Haploinsufficiency - Sufficient evidence for dosage pathogenicity (Mar 8, 2012)
  • Triplosensitivity - No evidence available (Mar 8, 2012)
  • Search ClinVar for variants within RB1
  • Search ClinVar for variants including RB1

This table lets you know if the ClinVar variant is observed in dbGaP data. It provides both the count of submissions to dbGaP with the variant and the frequency of the variant in the database, not in the population. It reports two measures: called variants when the variant is observed in the set formally submitted with a dbGaP study, and potential variants when NCBI found the variant in aligned NGS with the dbGaP study, but we can take reads that were submitted with the study, align them to the genome, and see if that variant is observed in the reads.

Formally, called variants are submitted to dbGaP as subject genotypes and counted when a sample (subject genotype from VCF file) has at least one allele present; potential variants are computed by examination of any aligned next generation sequence for the sample that covers the position. A sample (SRA run accession) is counted when the allele is observed in at least 30% of the reads covering the position, and 10 or more clean reads (not flagged as artifact or PCR duplicate) cover the position.

Variant counts are updated on a monthly basis.

• RefSeqGene
• Variation Viewer [GRCh38 - GRCh37]
• UCSC [GRCh38/hg38 - GRCh37/hg19]