ClinVar Miner

Variants in gene RB1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 43
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1216-29A>G rs3092886 0.02593
NM_000321.3(RB1):c.2212-16T>A rs201258424 0.01386
NM_000321.3(RB1):c.2490-1323C>T rs55926808 0.01180
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
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.862-15C>A rs115108608 0.00442
NM_000321.3(RB1):c.1390-11A>G rs200658795 0.00365
NM_000321.3(RB1):c.1632A>G (p.Arg544=) rs143948310 0.00245
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_000321.3(RB1):c.1961-12T>C rs201697122 0.00104
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.1770T>C (p.Cys590=) rs145310579 0.00062
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000321.3(RB1):c.1707A>G (p.Leu569=) rs3092895 0.00052
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp) rs187912365 0.00051
NM_000321.3(RB1):c.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_000321.3(RB1):c.1140C>T (p.Asn380=) rs117865557 0.00029
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.1491A>T (p.Thr497=) rs150115447 0.00015
NM_000321.3(RB1):c.1156A>G (p.Met386Val) rs564780653 0.00014
NM_000321.3(RB1):c.1306C>A (p.Gln436Lys) rs4151534 0.00014
NM_000321.3(RB1):c.2463A>G (p.Thr821=) rs370088029 0.00011
NM_000321.3(RB1):c.367A>G (p.Asn123Asp) rs149800437 0.00010
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr) rs148992508 0.00009
NM_000321.3(RB1):c.1967G>A (p.Arg656Gln) rs202031219 0.00007
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.1333-9dup rs766968771
NM_000321.3(RB1):c.137+13A>T rs762766187
NM_000321.3(RB1):c.1410T>C (p.Ile470=) rs578226820
NM_000321.3(RB1):c.1499-10del rs148580581
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.3(RB1):c.1861C>T (p.Arg621Cys) rs367578442
NM_000321.3(RB1):c.2212-12G>T rs776987458
NM_000321.3(RB1):c.2212-9C>A rs765386327
NM_000321.3(RB1):c.2455C>G (p.Leu819Val) rs375751988
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.3(RB1):c.608-4del rs762805947
NM_000321.3(RB1):c.608-4dup rs762805947

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