ClinVar Miner

List of variants in gene RB1 reported as uncertain significance by Mendelics

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637 0.00011
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln) rs748094394 0.00006
NM_000321.3(RB1):c.1814+11T>C rs771369373 0.00004
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg) rs374157786 0.00002
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln) rs374523971 0.00001
NM_000321.3(RB1):c.784C>T (p.Arg262Trp) rs556201144 0.00001
NM_000321.3(RB1):c.1016A>G (p.His339Arg) rs1566194383
NM_000321.3(RB1):c.1031A>G (p.Gln344Arg) rs1566194400
NM_000321.3(RB1):c.1111C>T (p.Pro371Ser) rs1952727399
NM_000321.3(RB1):c.124C>G (p.Leu42Val) rs1312883856
NM_000321.3(RB1):c.1399C>G (p.Arg467Gly) rs398123331
NM_000321.3(RB1):c.1720A>G (p.Lys574Glu) rs1593529910
NM_000321.3(RB1):c.1753C>T (p.His585Tyr) rs1401332173
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.3(RB1):c.2027T>C (p.Leu676Ser) rs1566235448
NM_000321.3(RB1):c.2441A>G (p.Lys814Arg) rs1566237785
NM_000321.3(RB1):c.607G>C (p.Gly203Arg) rs1012377281
NM_000321.3(RB1):c.611_612insTTTTTT (p.Glu204delinsAspPheLeu) rs1593443469
NM_000321.3(RB1):c.940G>T (p.Val314Phe) rs1566194312

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