ClinVar Miner

List of variants studied for Rhabdoid tumor predisposition syndrome 1 by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.500+6G>C rs772329556 0.00001
NC_000022.10:g.24171601-(24180196_?)
NM_003073.5(SMARCB1):c.1144G>A (p.Ala382Thr)
NM_003073.5(SMARCB1):c.1148del (p.Pro383fs) rs2146045204
NM_003073.5(SMARCB1):c.40_46dup (p.Lys16fs)

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