ClinVar Miner

List of variants in gene combination ANO9, B4GALNT4, CDHR5, DEAF1, DRD4, EPS8L2, HRAS, IFITM1, IFITM2, IFITM3, IFITM5, IRF7, LMNTD2, LRRC56, MIR210, MIR210HG, NLRP6, PGGHG, PHRF1, PKP3, PTDSS2, RASSF7, RNH1, SCT, SIGIRR, TALDO1, TMEM80 reported as pathogenic for Beckwith-Wiedemann syndrome due to 11p15 microdeletion

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 11p15.5(chr11:268586-748873)

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