ClinVar Miner

List of variants reported as uncertain significance for Retinoblastoma by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val) rs146434474 0.00005
NM_000321.3(RB1):c.731T>C (p.Ile244Thr) rs147754935 0.00004
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg) rs864622373 0.00004
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala) rs375597447 0.00004
NM_000321.3(RB1):c.1859C>T (p.Thr620Met) rs554834063 0.00003
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) rs750459929 0.00002
NM_000264.5(PTCH1):c.1028T>C (p.Val343Ala) rs962982192 0.00001
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met) rs587778632 0.00001
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys) rs759079385 0.00001
NM_000077.5(CDKN2A):c.392G>A (p.Arg131His) rs1563888782
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val) rs764137082
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1332+4A>G rs2138136847
NM_000321.3(RB1):c.1893del (p.Ala632fs)
NM_000321.3(RB1):c.2106+2T>C rs1566235515
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.2403del (p.Asn803fs)
NM_000321.3(RB1):c.2674C>T (p.Pro892Ser)
NM_000321.3(RB1):c.722del (p.Thr241fs)
NM_000321.3(RB1):c.847T>C (p.Cys283Arg)
NM_000321.3(RB1):c.868_869dup (p.Asn290fs)

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