ClinVar Miner

List of variants studied for Retinoblastoma by Color Diagnostics, LLC DBA Color Health

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Total variants: 20
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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.2521-11G>A rs4151624 0.00570
NM_000321.3(RB1):c.1390-11A>G rs200658795 0.00365
NM_000321.3(RB1):c.42C>T (p.Ala14=) rs148980395 0.00162
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.1707A>G (p.Leu569=) rs3092895 0.00052
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.628G>T (p.Asp210Tyr) rs148992508 0.00009
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu) rs748635133 0.00001
NM_000321.3(RB1):c.2107-13A>C rs773509289 0.00001
NM_000321.3(RB1):c.2517C>T (p.Phe839=) rs759188465 0.00001
NM_000321.3(RB1):c.549T>C (p.Thr183=) rs147793910 0.00001
NM_000321.3(RB1):c.560C>T (p.Ser187Phe) rs770277291 0.00001
NM_000321.3(RB1):c.1450A>G (p.Met484Val)
NM_000321.3(RB1):c.337A>C (p.Met113Leu) rs1593434246
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.3(RB1):c.616T>A (p.Leu206Ile)

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