ClinVar Miner

List of variants in gene NBPF1 reported by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001405666.3(NBPF1):c.1905-6C>A rs3896430 0.06723
NM_001405666.3(NBPF1):c.3853C>T (p.Leu1285Phe) rs1553179810
NM_017940.8(NBPF1):c.2666+2T>C rs763081531

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