ClinVar Miner

List of variants studied for Intellectual developmental disorder with or without epilepsy or cerebellar ataxia by New York Genome Center

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_134261.3(RORA):c.167-186181C>T rs1400541871 0.00001
NM_134261.3(RORA):c.591C>G (p.His197Gln) rs750296474 0.00001
NM_134261.3(RORA):c.1183+8G>T rs1452394787
NM_134261.3(RORA):c.1365C>A (p.His455Gln) rs199865260
NM_134261.3(RORA):c.166+91672A>G rs2140857527
NM_134261.3(RORA):c.167-69528A>G rs1479095602
NM_134261.3(RORA):c.196+51382_196+51385del rs539921893
NM_134261.3(RORA):c.32C>T (p.Ala11Val) rs2140955720
NM_134261.3(RORA):c.932A>G (p.Tyr311Cys) rs2141286172

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