ClinVar Miner

List of variants in gene RB1 reported by Mendelics

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Total variants: 50
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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.2490-45A>G rs4151610 0.00540
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_000321.3(RB1):c.1129A>T (p.Thr377Ser) rs146897002 0.00080
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408 0.00079
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.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000321.3(RB1):c.113G>A (p.Gly38Asp) rs766529534 0.00016
NM_000321.3(RB1):c.1156A>G (p.Met386Val) rs564780653 0.00014
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637 0.00011
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln) rs748094394 0.00006
NM_000321.3(RB1):c.1814+11T>C rs771369373 0.00004
NM_000321.3(RB1):c.1128-43C>T rs955333850 0.00002
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg) rs374157786 0.00002
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln) rs374523971 0.00001
NM_000321.3(RB1):c.784C>T (p.Arg262Trp) rs556201144 0.00001
NM_000321.3(RB1):c.1016A>G (p.His339Arg) rs1566194383
NM_000321.3(RB1):c.1031A>G (p.Gln344Arg) rs1566194400
NM_000321.3(RB1):c.1111C>T (p.Pro371Ser) rs1952727399
NM_000321.3(RB1):c.1128-45C>T rs1285629437
NM_000321.3(RB1):c.1216-2A>G rs1593453973
NM_000321.3(RB1):c.124C>G (p.Leu42Val) rs1312883856
NM_000321.3(RB1):c.1399C>G (p.Arg467Gly) rs398123331
NM_000321.3(RB1):c.1720A>G (p.Lys574Glu) rs1593529910
NM_000321.3(RB1):c.1753C>T (p.His585Tyr) rs1401332173
NM_000321.3(RB1):c.1970dup (p.Ala658fs) rs2138335833
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.3(RB1):c.2027T>C (p.Leu676Ser) rs1566235448
NM_000321.3(RB1):c.2212-13_2212-12insTTTTTTTT rs1593539077
NM_000321.3(RB1):c.2212-16dup rs553094345
NM_000321.3(RB1):c.2212-17_2212-16del rs553094345
NM_000321.3(RB1):c.2212-17_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-18_2212-16del rs553094345
NM_000321.3(RB1):c.2212-18_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-29_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-37_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-9C>A rs765386327
NM_000321.3(RB1):c.2441A>G (p.Lys814Arg) rs1566237785
NM_000321.3(RB1):c.2447C>A (p.Ser816Ter) rs1593539493
NM_000321.3(RB1):c.2490-1530_*109del
NM_000321.3(RB1):c.2521-4G>T rs902298592
NM_000321.3(RB1):c.32_63del (p.Ala11fs) rs1593411974
NM_000321.3(RB1):c.381-2A>T rs1952480014
NM_000321.3(RB1):c.606del (p.Glu204fs) rs1593438023
NM_000321.3(RB1):c.607G>C (p.Gly203Arg) rs1012377281
NM_000321.3(RB1):c.611_612insTTTTTT (p.Glu204delinsAspPheLeu) rs1593443469
NM_000321.3(RB1):c.649del (p.Gln217fs) rs1593443514
NM_000321.3(RB1):c.940G>T (p.Val314Phe) rs1566194312

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