ClinVar Miner

List of variants in gene combination APOLD1, ARHGDIB, ART4, ATF7IP, BCL2L14, BORCS5, C12orf60, CDKN1B, CREBL2, DDX47, DUSP16, EMP1, EPS8, ERP27, ETV6, FAM234B, GPR19, GPRC5A, GPRC5D, GRIN2B, GSG1, GUCY2C, H2AJ, H4C16, HEBP1, LRP6, MANSC1, MGP, PDE6H, PLBD1, PTPRO, RERG, SMCO3, WBP11 reported as uncertain significance for Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27

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Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NC_000012.11:g.(?_11803062)_(15835885_?)dup

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