ClinVar Miner

List of variants reported as uncertain significance for Developmental delay with or without intellectual impairment or behavioral abnormalities

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_020791.4(TAOK1):c.749+4A>G rs377646005 0.00021
GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3
NM_020791.4(TAOK1):c.*3451T>A rs2508365262
NM_020791.4(TAOK1):c.1135A>G (p.Ser379Gly)
NM_020791.4(TAOK1):c.132+2dup
NM_020791.4(TAOK1):c.1837C>G (p.Leu613Val) rs2031841258
NM_020791.4(TAOK1):c.2082G>T (p.Lys694Asn)
NM_020791.4(TAOK1):c.2113G>A (p.Val705Ile)
NM_020791.4(TAOK1):c.223A>G (p.Lys75Glu) rs2153026444
NM_020791.4(TAOK1):c.2431C>G (p.Leu811Val) rs372060471
NM_020791.4(TAOK1):c.2544+3A>G
NM_020791.4(TAOK1):c.2578C>T (p.Arg860Cys) rs1567750713
NM_020791.4(TAOK1):c.2716G>A (p.Gly906Arg) rs2508357094
NM_020791.4(TAOK1):c.307-14A>G
NM_020791.4(TAOK1):c.379G>A (p.Glu127Lys) rs2508200760
NM_020791.4(TAOK1):c.406C>T (p.Leu136Phe)
NM_020791.4(TAOK1):c.557C>T (p.Pro186Leu) rs2508206186
NM_020791.4(TAOK1):c.713C>A (p.Ala238Asp) rs2508226417
NM_020791.4(TAOK1):c.811A>C (p.Thr271Pro)
NM_020791.4(TAOK1):c.970C>G (p.Pro324Ala)
NM_020791.4:c.(832+1_833-1)_(1575+1_1576-1)del

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