List of variants in gene TAOK1 reported as pathogenic for Developmental delay with or without intellectual impairment or behavioral abnormalities

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_020791.4(TAOK1):c.1960C>T (p.Arg654Ter)	rs2031934299	0.00001
GRCh38/hg38 17q11.2(chr17:29461486-29495582)x1
NM_020791.4(TAOK1):c.136C>T (p.Arg46Ter)	rs2030687889
NM_020791.4(TAOK1):c.1507C>T (p.Gln503Ter)
NM_020791.4(TAOK1):c.1576-2A>T
NM_020791.4(TAOK1):c.1643T>C (p.Leu548Pro)	rs2153029597
NM_020791.4(TAOK1):c.1850del (p.Arg617fs)	rs2508291267
NM_020791.4(TAOK1):c.18_19del (p.Arg6fs)	rs2508137778
NM_020791.4(TAOK1):c.2104C>T (p.Arg702Ter)	rs1481295744
NM_020791.4(TAOK1):c.2125C>T (p.Arg709Ter)	rs1347078601
NM_020791.4(TAOK1):c.2203del (p.Arg735fs)	rs2150772064
NM_020791.4(TAOK1):c.2366_2367insC (p.Leu790fs)	rs2150774757
NM_020791.4(TAOK1):c.626G>A (p.Trp209Ter)	rs2031080312
NM_020791.4(TAOK1):c.728del (p.Pro243fs)
NM_020791.4(TAOK1):c.920del (p.Leu307fs)

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