ClinVar Miner

List of variants in gene RB1 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NC_000013.10:g.(?_48953724)_(48955585_?)del
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.1199T>C (p.Leu400Pro) rs2138131298
NM_000321.3(RB1):c.1215+5G>A
NM_000321.3(RB1):c.1589A>G (p.Lys530Arg) rs1948534047
NM_000321.3(RB1):c.1695+5G>A
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu) rs137853292
NM_000321.3(RB1):c.2084T>A (p.Met695Lys)
NM_000321.3(RB1):c.2325+5G>C
NM_000321.3(RB1):c.2490-1G>C
NM_000321.3(RB1):c.2520+4A>G rs1949484627
NM_000321.3(RB1):c.264+5G>A rs1131690853
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.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.652T>G (p.Leu218Val) rs1566191596
NM_000321.3(RB1):c.718+5G>T rs1131690848
NM_000321.3(RB1):c.939G>A (p.Glu313=) rs2138116702

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