ClinVar Miner

List of variants studied for Developmental delay with or without intellectual impairment or behavioral abnormalities by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020791.4(TAOK1):c.*3451T>A rs2508365262
NM_020791.4(TAOK1):c.653T>C (p.Leu218Pro) rs2508210940
NM_020791.4(TAOK1):c.692T>A (p.Met231Lys) rs2508226400

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