ClinVar Miner

List of variants in gene RB1 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 37
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HGVS dbSNP
NM_000321.2(RB1):c.1156A>G (p.Met386Val) rs564780653
NM_000321.2(RB1):c.1180G>A (p.Asp394Asn) rs753350745
NM_000321.2(RB1):c.128C>G (p.Pro43Arg) rs1555279239
NM_000321.2(RB1):c.1306C>A (p.Gln436Lys) rs4151534
NM_000321.2(RB1):c.1364G>C (p.Arg455Pro) rs769425649
NM_000321.2(RB1):c.1474G>A (p.Glu492Lys) rs1060503084
NM_000321.2(RB1):c.1574C>A (p.Ala525Asp) rs4151539
NM_000321.2(RB1):c.1617A>C (p.Glu539Asp) rs371031574
NM_000321.2(RB1):c.1675G>C (p.Glu559Gln) rs1131690869
NM_000321.2(RB1):c.1814+4A>G rs1131690898
NM_000321.2(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.2(RB1):c.1861C>T (p.Arg621Cys) rs367578442
NM_000321.2(RB1):c.1966C>T (p.Arg656Trp) rs142509759
NM_000321.2(RB1):c.219A>C (p.Arg73Ser) rs1131690854
NM_000321.2(RB1):c.2327C>A (p.Pro776His) rs912203557
NM_000321.2(RB1):c.2360G>A (p.Arg787Gln) rs748094394
NM_000321.2(RB1):c.2392C>T (p.Arg798Trp) rs187912365
NM_000321.2(RB1):c.2519G>A (p.Gly840Glu) rs1131690900
NM_000321.2(RB1):c.2533T>C (p.Phe845Leu) rs754183765
NM_000321.2(RB1):c.2566G>A (p.Asp856Asn) rs149359120
NM_000321.2(RB1):c.2570G>A (p.Arg857His) rs144668210
NM_000321.2(RB1):c.2626C>T (p.Arg876Cys) rs143105337
NM_000321.2(RB1):c.264+5G>C rs1131690853
NM_000321.2(RB1):c.367A>G (p.Asn123Asp) rs149800437
NM_000321.2(RB1):c.411A>T (p.Glu137Asp) rs3092902
NM_000321.2(RB1):c.52G>T (p.Ala18Ser) rs528218090
NM_000321.2(RB1):c.590C>A (p.Thr197Lys) rs1131690883
NM_000321.2(RB1):c.59C>T (p.Pro20Leu) rs587778637
NM_000321.2(RB1):c.608-4delT rs762805947
NM_000321.2(RB1):c.628G>T (p.Asp210Tyr) rs148992508
NM_000321.2(RB1):c.69_71GCC[3] (p.Pro29del) rs587778823
NM_000321.2(RB1):c.69_71GCC[5] (p.Pro29dup) rs587778823
NM_000321.2(RB1):c.718+5G>T rs1131690848
NM_000321.2(RB1):c.814A>G (p.Arg272Gly) rs1555284945
NM_000321.2(RB1):c.867A>C (p.Lys289Asn) rs1555285126
NM_000321.2(RB1):c.88G>C (p.Glu30Gln) rs1555279228
NM_000321.2(RB1):c.959G>A (p.Arg320Gln) rs760787104

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