List of variants reported as uncertain significance for Retinoblastoma by Mendelics

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Total variants: 15

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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.2518G>A (p.Gly840Arg)	rs374157786	0.00002
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.124C>G (p.Leu42Val)	rs1312883856
NM_000321.3(RB1):c.1399C>G (p.Arg467Gly)	rs398123331
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
NM_001162498.3(LPAR6):c.368_369insAAAAAAAA (p.Ser124fs)	rs1370123231

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