ClinVar Miner

List of variants reported for Intellectual disability by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser) rs1859965098 0.00001
NM_004818.3(DDX23):c.1583G>A (p.Arg528His) rs1938420751 0.00001
NM_015330.6(SPECC1L):c.1900C>T (p.Arg634Ter) rs200870836 0.00001
NM_031407.7(HUWE1):c.647C>T (p.Thr216Ile) rs2066881864

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