ClinVar Miner

List of variants in gene RB1 reported by Baylor Genetics

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.2221C>T (p.Arg741Cys) rs529366765 0.00004
NM_000321.3(RB1):c.2344A>G (p.Ile782Val) rs1283644725 0.00003
NM_000321.3(RB1):c.1318G>A (p.Glu440Lys) rs1060503078 0.00002
NM_000321.3(RB1):c.761G>A (p.Arg254Lys) rs200674097 0.00002
NM_000321.3(RB1):c.-149G>T rs1014776340 0.00001
NM_000321.3(RB1):c.1067C>T (p.Thr356Ile) rs774525913 0.00001
NM_000321.3(RB1):c.1163T>G (p.Ile388Ser) rs373623059 0.00001
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr) rs181988132 0.00001
NM_000321.3(RB1):c.1364G>A (p.Arg455Gln) rs769425649 0.00001
NM_000321.3(RB1):c.1736G>A (p.Arg579Gln) rs751560923 0.00001
NM_000321.3(RB1):c.1750G>T (p.Asp584Tyr) rs1343212063 0.00001
NM_000321.3(RB1):c.175G>C (p.Ala59Pro) rs184754468 0.00001
NM_000321.3(RB1):c.1982G>A (p.Arg661Gln) rs750578651 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.2332A>G (p.Thr778Ala) rs878853950 0.00001
NM_000321.3(RB1):c.2620A>C (p.Lys874Gln) rs757818801 0.00001
NM_000321.3(RB1):c.2636T>C (p.Ile879Thr) rs764140783 0.00001
NM_000321.3(RB1):c.2694G>T (p.Gln898His) rs757275103 0.00001
NM_000321.3(RB1):c.269G>T (p.Gly90Val) rs554727080 0.00001
NM_000321.3(RB1):c.536G>T (p.Ser179Ile) rs1566187849 0.00001
NM_000321.3(RB1):c.694C>T (p.Pro232Ser) rs1195873978 0.00001
NM_000321.3(RB1):c.697A>G (p.Met233Val) rs770860809 0.00001
NM_000321.3(RB1):c.89A>C (p.Glu30Ala) rs1482284498 0.00001
NM_000321.3(RB1):c.1050-11T>G
NM_000321.3(RB1):c.1093G>C (p.Glu365Gln) rs1270702085
NM_000321.3(RB1):c.1123G>C (p.Val375Leu) rs1952727557
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.130C>G (p.Leu44Val) rs1345893304
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter) rs1593455621
NM_000321.3(RB1):c.1390-3C>A
NM_000321.3(RB1):c.1395A>C (p.Glu465Asp)
NM_000321.3(RB1):c.1410T>G (p.Ile470Met) rs578226820
NM_000321.3(RB1):c.1439A>G (p.Asn480Ser) rs1555286598
NM_000321.3(RB1):c.164C>G (p.Pro55Arg)
NM_000321.3(RB1):c.1672A>C (p.Met558Leu) rs1419550675
NM_000321.3(RB1):c.1772C>T (p.Pro591Leu) rs1221157259
NM_000321.3(RB1):c.1892A>G (p.Gln631Arg) rs1593532019
NM_000321.3(RB1):c.1945C>G (p.Leu649Val)
NM_000321.3(RB1):c.1960+1G>A rs1949360306
NM_000321.3(RB1):c.2059A>G (p.Thr687Ala)
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser) rs1131690891
NM_000321.3(RB1):c.2106+3A>G rs1353683992
NM_000321.3(RB1):c.218G>C (p.Arg73Thr)
NM_000321.3(RB1):c.2327C>A (p.Pro776His) rs912203557
NM_000321.3(RB1):c.235G>C (p.Glu79Gln) rs1060503090
NM_000321.3(RB1):c.2432G>A (p.Ser811Asn) rs1220980701
NM_000321.3(RB1):c.2493C>G (p.Ile831Met)
NM_000321.3(RB1):c.2539A>G (p.Lys847Glu) rs2138358973
NM_000321.3(RB1):c.2594G>C (p.Gly865Ala)
NM_000321.3(RB1):c.263T>G (p.Leu88Trp) rs1555279518
NM_000321.3(RB1):c.2729G>A (p.Arg910Gln) rs1360367329
NM_000321.3(RB1):c.2746A>C (p.Met916Leu) rs1949528459
NM_000321.3(RB1):c.2779G>C (p.Glu927Gln) rs1949528826
NM_000321.3(RB1):c.539+4A>G
NM_000321.3(RB1):c.54_76dup (p.Pro26fs) rs1555279210
NM_000321.3(RB1):c.62C>T (p.Pro21Leu) rs1444353743
NM_000321.3(RB1):c.708A>C (p.Lys236Asn) rs1173696113
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.3(RB1):c.772A>G (p.Asn258Asp)
NM_000321.3(RB1):c.889A>T (p.Ile297Leu) rs1286975378
NM_000321.3(RB1):c.8C>T (p.Pro3Leu)
NM_000321.3(RB1):c.940G>A (p.Val314Ile)
NM_000321.3(RB1):c.963del (p.Arg320_Tyr321insTer) rs1952715820
NM_000321.3(RB1):c.964G>A (p.Glu322Lys) rs776534331

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