ClinVar Miner

List of variants in gene RB1 reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
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.2212-16T>A rs201258424 0.01386
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_000321.3(RB1):c.2212-15A>G rs372815788 0.00212
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.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000321.3(RB1):c.1390-17T>A rs794727138 0.00017
NM_000321.3(RB1):c.16C>T (p.Pro6Ser) rs886043138 0.00004
NM_000321.3(RB1):c.2626C>T (p.Arg876Cys) rs143105337 0.00003
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter) rs121913302 0.00001
NM_000321.2(RB1):c.1402_1412dup (p.Gln471Hisfs) rs797044649
NM_000321.2(RB1):c.2084T>G (p.Met695Arg) rs727504122
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1191del (p.Glu398fs) rs727504121
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.3(RB1):c.1422-8del rs747048469
NM_000321.3(RB1):c.1472T>C (p.Leu491Pro) rs587778848
NM_000321.3(RB1):c.1510C>T (p.Gln504Ter) rs886043247
NM_000321.3(RB1):c.1585dup (p.Tyr529fs) rs398123332
NM_000321.3(RB1):c.1696-1G>A rs794727199
NM_000321.3(RB1):c.2067_2079delinsCAC (p.Gln689fs) rs398123333
NM_000321.3(RB1):c.2325+5G>A rs886042249
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.2370C>A (p.Tyr790Ter) rs794727372
NM_000321.3(RB1):c.2488_2489+7del rs1555294634
NM_000321.3(RB1):c.2489+1G>C rs764754259
NM_000321.3(RB1):c.2548C>T (p.Gln850Ter) rs886042935
NM_000321.3(RB1):c.297G>A (p.Trp99Ter) rs794727481
NM_000321.3(RB1):c.376del (p.Ile126fs) rs886042357
NM_000321.3(RB1):c.396del (p.Phe132fs) rs886043313
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.3(RB1):c.54_79del (p.Glu19fs) rs727504120
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842

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