ClinVar Miner

List of variants studied for Intellectual developmental disorder with or without epilepsy or cerebellar ataxia by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_134261.3(RORA):c.140G>C (p.Arg47Thr) rs1256061363 0.00001
NM_134261.3(RORA):c.1210T>C (p.Phe404Leu) rs2065315266
NM_134261.3(RORA):c.1251A>C (p.Glu417Asp) rs2541974560
NM_134261.3(RORA):c.196+51284T>A rs1433404184
NM_134261.3(RORA):c.197-11T>C rs927119524

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