ClinVar Miner

List of variants in gene RB1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1390-14A>T rs9535023 0.04866
NM_000321.3(RB1):c.1216-29A>G rs3092886 0.02593
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120 0.00075
NM_000321.3(RB1):c.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_000321.3(RB1):c.1306C>A (p.Gln436Lys) rs4151534 0.00014
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter) rs1593455621
NM_000321.3(RB1):c.1891C>T (p.Gln631Ter) rs1217977493
NM_000321.3(RB1):c.2420C>G (p.Ser807Ter) rs2138345919
NM_000321.3(RB1):c.2460A>G (p.Pro820=) rs1555294628
NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer) rs1566240909
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921

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