ClinVar Miner

List of variants in gene RB1 reported as benign by Ambry Genetics

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly) rs4151539 0.00623
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_000321.3(RB1):c.52G>T (p.Ala18Ser) rs528218090 0.00076
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp) rs187912365 0.00051
NM_000321.3(RB1):c.1156A>G (p.Met386Val) rs564780653 0.00014
NM_000321.3(RB1):c.2003G>A (p.Arg668His) rs551747882 0.00005
NM_000321.3(RB1):c.2652A>C (p.Glu884Asp) rs765537411 0.00005
NM_000321.3(RB1):c.1573G>A (p.Ala525Thr) rs587778640 0.00004
NM_000321.3(RB1):c.16C>T (p.Pro6Ser) rs886043138 0.00004
NM_000321.3(RB1):c.173C>T (p.Thr58Ile) rs138574644 0.00004
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg) rs974956317 0.00002
NM_000321.3(RB1):c.155C>T (p.Thr52Ile) rs780588550 0.00001
NM_000321.3(RB1):c.1815-5T>C rs770160524 0.00001
NM_000321.3(RB1):c.1876G>A (p.Ala626Thr) rs747147942 0.00001
NM_000321.3(RB1):c.2002C>T (p.Arg668Cys) rs369755801 0.00001
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu) rs3092903 0.00001
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln) rs374523971 0.00001
NM_000321.3(RB1):c.265-6_265-4del rs780733860 0.00001
NM_000321.3(RB1):c.685C>T (p.Leu229Phe) rs766131342 0.00001
NM_000321.3(RB1):c.1468G>A (p.Ala490Thr) rs201458896
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.3(RB1):c.1861C>G (p.Arg621Gly) rs367578442
NM_000321.3(RB1):c.1861C>T (p.Arg621Cys) rs367578442
NM_000321.3(RB1):c.264+182_264+980del
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921

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