ClinVar Miner

List of variants studied for Developmental delay with or without dysmorphic facies and autism; Hearing loss, autosomal dominant 75

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001375524.1(TRRAP):c.2237T>G (p.Leu746Arg)
NM_001375524.1(TRRAP):c.2857G>A (p.Ala953Thr)
NM_001375524.1(TRRAP):c.9500G>A (p.Arg3167Gln) rs1245057200
NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val) rs1793524609

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