ClinVar Miner

List of variants studied for Epilepsy, early-onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies by New York Genome Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014712.3(SETD1A):c.4298C>T (p.Ser1433Leu) rs375585323 0.00002
NM_014712.3(SETD1A):c.1949C>T (p.Pro650Leu) rs1051816095 0.00001
NM_014712.3(SETD1A):c.667G>C (p.Asp223His) rs550270592 0.00001

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