ClinVar Miner

List of variants reported as uncertain significance for Retinoblastoma by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.*1044T>A rs1043605723 0.00036
NM_000321.3(RB1):c.-69G>C rs753117180 0.00014
NM_000321.3(RB1):c.*68A>G rs547352312 0.00012
NM_000321.3(RB1):c.*1022C>T rs886050283 0.00009
NM_000321.3(RB1):c.2003G>A (p.Arg668His) rs551747882 0.00005
NM_000321.3(RB1):c.*1707C>T rs755984043 0.00004
NM_000321.3(RB1):c.462G>A (p.Lys154=) rs369830657 0.00004
NM_000321.3(RB1):c.*162T>G rs886050273 0.00003
NM_000321.3(RB1):c.*1544T>C rs886050285 0.00001
NM_000321.3(RB1):c.*573A>G rs1450335586 0.00001
NM_000321.3(RB1):c.-81G>A rs886050267 0.00001
NM_000321.3(RB1):c.1139A>G (p.Asn380Ser) rs1470523018 0.00001
NM_000321.3(RB1):c.1378A>G (p.Met460Val) rs1258210045 0.00001
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln) rs773116120 0.00001
NM_000321.3(RB1):c.1696-4A>G rs143685082 0.00001
NM_000321.3(RB1):c.2029G>A (p.Glu677Lys) rs1060503067 0.00001
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu) rs3092903 0.00001
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser) rs1167280920 0.00001
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln) rs374523971 0.00001
NM_000321.3(RB1):c.393C>G (p.Phe131Leu) rs749495284 0.00001
NM_000321.3(RB1):c.*1408C>T rs1315102846
NM_000321.3(RB1):c.*1459T>C rs886050284
NM_000321.3(RB1):c.*1540A>G rs768155412
NM_000321.3(RB1):c.*1635T>A rs886050286
NM_000321.3(RB1):c.*249G>T rs1949530910
NM_000321.3(RB1):c.*392T>G rs1949531949
NM_000321.3(RB1):c.*398G>T rs886050274
NM_000321.3(RB1):c.*413T>G rs886050275
NM_000321.3(RB1):c.*435A>G rs886050276
NM_000321.3(RB1):c.*444ATCT[1] rs746086958
NM_000321.3(RB1):c.*512A>C rs886050278
NM_000321.3(RB1):c.*604A>T rs886050279
NM_000321.3(RB1):c.*673G>T rs886050280
NM_000321.3(RB1):c.*788C>A rs886050281
NM_000321.3(RB1):c.*998G>A rs886050282
NM_000321.3(RB1):c.-100A>T rs1952049790
NM_000321.3(RB1):c.-153G>T rs886050266
NM_000321.3(RB1):c.-155G>C rs1952049136
NM_000321.3(RB1):c.-156C>A rs886050265
NM_000321.3(RB1):c.1422-4T>G rs201554179
NM_000321.3(RB1):c.1696-11G>T rs1949337308
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.3(RB1):c.1996T>C (p.Cys666Arg) rs1949383921
NM_000321.3(RB1):c.2599A>G (p.Asn867Asp) rs1949506622
NM_000321.3(RB1):c.2627G>A (p.Arg876His) rs767232453
NM_000321.3(RB1):c.299G>C (p.Gly100Ala) rs886050268
NM_000321.3(RB1):c.331G>A (p.Asp111Asn) rs1952456285
NM_000321.3(RB1):c.397A>C (p.Asn133His) rs3092900
NM_000321.3(RB1):c.616T>C (p.Leu206=) rs886050270
NM_000321.3(RB1):c.953C>G (p.Ser318Cys) rs886050271

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.