ClinVar Miner

List of variants studied for nervous system cancer by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly) rs4151539 0.00623
NM_000321.3(RB1):c.1814+3A>G rs376886420 0.00003
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461

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