ClinVar Miner

List of variants reported as pathogenic for Developmental delay with or without intellectual impairment or behavioral abnormalities by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020791.4(TAOK1):c.1643T>C (p.Leu548Pro)	rs2153029597
NM_020791.4(TAOK1):c.2203del (p.Arg735fs)	rs2150772064
NM_020791.4(TAOK1):c.2366_2367insC (p.Leu790fs)	rs2150774757

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