ClinVar Miner

List of variants studied for Epilepsy, early-onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014712.3(SETD1A):c.5100G>T (p.Glu1700Asp) rs200790174 0.00009
NM_014712.3(SETD1A):c.1361AAG[1] (p.Glu455del) rs765988427
NM_014712.3(SETD1A):c.1624C>A (p.Pro542Thr)
NM_014712.3(SETD1A):c.2119C>T (p.Pro707Ser)
NM_014712.3(SETD1A):c.2122G>C (p.Gly708Arg)
NM_014712.3(SETD1A):c.2432A>G (p.Asn811Ser)
NM_014712.3(SETD1A):c.3793C>T (p.Arg1265Trp)
NM_014712.3(SETD1A):c.4073G>C (p.Arg1358Pro) rs749924352

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