ClinVar Miner

List of variants reported as likely pathogenic for retinal cell cancer

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1206C>T (p.Ser402=) rs752679968 0.00001
NC_000013.10:g.(?_48953724)_(48955585_?)del
NC_000013.10:g.(?_48954291)_(48955599_?)dup
NC_000013.11:g.(?_48379594)_(48381443_?)del
NC_000013.11:g.(?_48452979)_(48465378_?)dup
NC_000013.11:g.(?_48452983)_(48465378_?)dup
NC_000013.11:g.48303714_48303721del rs2138025968
NM_000321.3(RB1):c.-189G>T rs387906520
NM_000321.3(RB1):c.-197G>A
NM_000321.3(RB1):c.-197G>C
NM_000321.3(RB1):c.-197G>T
NM_000321.3(RB1):c.-198_-189delinsAA
NM_000321.3(RB1):c.-206_-189del rs2138025895
NM_000321.3(RB1):c.1002del (p.Arg334fs) rs1593448449
NM_000321.3(RB1):c.1199T>C (p.Leu400Pro) rs2138131298
NM_000321.3(RB1):c.1215+5G>A
NM_000321.3(RB1):c.1216-1G>A rs587778831
NM_000321.3(RB1):c.1331A>C (p.Gln444Pro) rs2138136810
NM_000321.3(RB1):c.1331A>T (p.Gln444Leu)
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg) rs1131690851
NM_000321.3(RB1):c.1346G>T (p.Gly449Val) rs587778847
NM_000321.3(RB1):c.1362C>G (p.Tyr454Ter)
NM_000321.3(RB1):c.137G>C (p.Arg46Thr) rs2138028088
NM_000321.3(RB1):c.1389+4A>G
NM_000321.3(RB1):c.1389+5G>C rs1131690859
NM_000321.3(RB1):c.1448A>G (p.His483Arg)
NM_000321.3(RB1):c.1589A>G (p.Lys530Arg) rs1948534047
NM_000321.3(RB1):c.1695+5G>A
NM_000321.3(RB1):c.1696-2A>G rs1593529868
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu) rs137853292
NM_000321.3(RB1):c.1960G>T (p.Val654Leu)
NM_000321.3(RB1):c.1961T>A (p.Val654Glu) rs769113950
NM_000321.3(RB1):c.1964A>G (p.Tyr655Cys) rs774196937
NM_000321.3(RB1):c.1970T>C (p.Leu657Pro)
NM_000321.3(RB1):c.1982G>C (p.Arg661Pro)
NM_000321.3(RB1):c.1985T>C (p.Leu662Pro)
NM_000321.3(RB1):c.2084T>A (p.Met695Lys)
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr)
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser) rs1131690891
NM_000321.3(RB1):c.2104C>A (p.Gln702Lys)
NM_000321.3(RB1):c.2117G>A (p.Cys706Tyr)
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2212-13T>A rs2138344431
NM_000321.3(RB1):c.2279T>C (p.Phe760Ser) rs1949430890
NM_000321.3(RB1):c.2325+2T>G
NM_000321.3(RB1):c.2325+5G>C
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys)
NM_000321.3(RB1):c.2490-1G>C
NM_000321.3(RB1):c.2490-28T>C
NM_000321.3(RB1):c.2520+4A>G rs1949484627
NM_000321.3(RB1):c.2520+5G>A rs1131690881
NM_000321.3(RB1):c.2520+5G>C rs1131690881
NM_000321.3(RB1):c.2520+5G>T rs1131690881
NM_000321.3(RB1):c.2520+6T>C rs2138354759
NM_000321.3(RB1):c.264+5G>A rs1131690853
NM_000321.3(RB1):c.2663G>A (p.Ser888Asn) rs1555295354
NM_000321.3(RB1):c.32_63del (p.Ala11fs) rs1593411974
NM_000321.3(RB1):c.34_71del (p.Thr12fs) rs2138027150
NM_000321.3(RB1):c.373G>T (p.Glu125Ter) rs1952457111
NM_000321.3(RB1):c.380G>C (p.Ser127Thr) rs1131690843
NM_000321.3(RB1):c.380G>T (p.Ser127Ile) rs1131690843
NM_000321.3(RB1):c.381-1G>A rs1566186836
NM_000321.3(RB1):c.402dup (p.Leu135fs)
NM_000321.3(RB1):c.534_539+5del
NM_000321.3(RB1):c.539+1G>A rs1566187856
NM_000321.3(RB1):c.539+1G>C
NM_000321.3(RB1):c.54_76dup (p.Pro26fs) rs1555279210
NM_000321.3(RB1):c.652T>G (p.Leu218Val) rs1566191596
NM_000321.3(RB1):c.718+5G>T rs1131690848
NM_000321.3(RB1):c.719-1_719delinsAG rs2138112061
NM_000321.3(RB1):c.719-2A>T rs1952654925
NM_000321.3(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000321.3(RB1):c.939G>A (p.Glu313=) rs2138116702
NM_000321.3:c.2265_2343delinsAT
NM_020937.4(FANCM):c.4826_4827del (p.Asp1609fs) rs1375421660

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