ClinVar Miner

List of variants reported for Neuroblastoma 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_000059.4(BRCA2):c.8918G>A (p.Arg2973His) rs80359143 0.00004
NM_000264.5(PTCH1):c.55G>A (p.Gly19Ser) rs778460384 0.00003
NM_000368.5(TSC1):c.2488C>G (p.Gln830Glu) rs1564475884
NM_001370259.2(MEN1):c.262G>T (p.Ala88Ser) rs1565651916
NM_003072.5(SMARCA4):c.535C>T (p.Gln179Ter) rs1469271544

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