ClinVar Miner

List of variants studied for Developmental delay with or without intellectual impairment or behavioral abnormalities by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020791.4(TAOK1):c.2125C>T (p.Arg709Ter) rs1347078601
NM_020791.4(TAOK1):c.589A>C (p.Met197Leu) rs2153026918
NM_020791.4(TAOK1):c.658G>T (p.Glu220Ter) rs2508226327

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