ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NM_000321.2(RB1):c.1016A>G (p.His339Arg)
NM_000321.2(RB1):c.1031A>G (p.Gln344Arg)
NM_000321.2(RB1):c.1399C>G (p.Arg467Gly)
NM_000321.2(RB1):c.2027T>C (p.Leu676Ser)
NM_000321.2(RB1):c.2360G>A (p.Arg787Gln) rs748094394
NM_000321.2(RB1):c.2441A>G (p.Lys814Arg)
NM_000321.2(RB1):c.2518G>A (p.Gly840Arg) rs374157786
NM_000321.2(RB1):c.2566G>A (p.Asp856Asn) rs149359120
NM_000321.2(RB1):c.59C>T (p.Pro20Leu) rs587778637
NM_000321.2(RB1):c.607G>C (p.Gly203Arg)
NM_000321.2(RB1):c.784C>T (p.Arg262Trp) rs556201144
NM_000321.2(RB1):c.940G>T (p.Val314Phe)

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