ClinVar Miner

List of variants in gene RB1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.500+23T>G rs198617 0.93273
NM_000321.3(RB1):c.2663+33C>T rs3020646 0.90292
NM_000321.3(RB1):c.380+45C>T rs520342 0.21231
NM_000321.3(RB1):c.2664-10T>A rs3092904 0.19833
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.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.1390-11A>G rs200658795 0.00365
NM_000321.3(RB1):c.1632A>G (p.Arg544=) rs143948310 0.00245
NM_000321.3(RB1):c.2212-15A>G rs372815788 0.00212
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.1966C>T (p.Arg656Trp) rs142509759 0.00059
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.113G>A (p.Gly38Asp) rs766529534 0.00016
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637 0.00011
NM_000321.3(RB1):c.462G>A (p.Lys154=) rs369830657 0.00004
NM_000321.3(RB1):c.109A>G (p.Ser37Gly) rs896487590 0.00003
NM_000321.3(RB1):c.1464G>A (p.Ala488=) rs753520981 0.00002
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg) rs374157786 0.00002
NM_000321.3(RB1):c.1128-5del rs886038280 0.00001
NM_000321.3(RB1):c.1988A>G (p.Asn663Ser) rs1007286459 0.00001
NM_000321.3(RB1):c.539C>T (p.Ser180Leu) rs367654488 0.00001
NM_000321.3(RB1):c.862-8T>C rs745767704 0.00001
NM_000321.3(RB1):c.-153G>C
NM_000321.3(RB1):c.1147C>T (p.Gln383Ter) rs1131690846
NM_000321.3(RB1):c.1215+1G>C
NM_000321.3(RB1):c.1390-18_1390-17del
NM_000321.3(RB1):c.1410T>C (p.Ile470=) rs578226820
NM_000321.3(RB1):c.1421+19G>A
NM_000321.3(RB1):c.1421+1G>T
NM_000321.3(RB1):c.1439A>G (p.Asn480Ser) rs1555286598
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.3(RB1):c.2212-12G>T rs776987458
NM_000321.3(RB1):c.2212-14C>A
NM_000321.3(RB1):c.2212-14del
NM_000321.3(RB1):c.2212-15A>C
NM_000321.3(RB1):c.2212-19_2212-16del
NM_000321.3(RB1):c.2212-22_2212-16del
NM_000321.3(RB1):c.2212-3C>A
NM_000321.3(RB1):c.2212-9C>A rs765386327
NM_000321.3(RB1):c.2406G>A (p.Gly802=) rs866638680
NM_000321.3(RB1):c.2455C>G (p.Leu819Val) rs375751988
NM_000321.3(RB1):c.2455C>T (p.Leu819=) rs375751988
NM_000321.3(RB1):c.2486C>G (p.Ser829Ter)
NM_000321.3(RB1):c.2490-1403A>T
NM_000321.3(RB1):c.2615T>C (p.Leu872Pro) rs1470516350
NM_000321.3(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.3(RB1):c.501-17_501-15del rs755753209
NM_000321.3(RB1):c.608-4del rs762805947
NM_000321.3(RB1):c.608-4dup rs762805947
NM_000321.3(RB1):c.735del (p.Ile246fs) rs1131690847
NM_000321.3(RB1):c.739A>G (p.Asn247Asp) rs1429451823
NM_000321.3(RB1):c.861+10C>G

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