ClinVar Miner

List of variants reported as likely pathogenic by Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.2426_2428del (p.Val809del) rs587779240
NM_000546.6(TP53):c.97-6_129del rs2073485358
NM_001042492.3(NF1):c.6819+3del rs2069728377
NM_177438.3(DICER1):c.3405dup (p.Gly1136fs) rs1891173247

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