List of variants in gene KAT6B studied for Intellectual disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_012330.4(KAT6B):c.1714C>T (p.Arg572Cys)	rs766989154	0.00006
NM_012330.4(KAT6B):c.1787G>A (p.Arg596Gln)	rs770204556
NM_012330.4(KAT6B):c.2949C>A (p.Asp983Glu)
NM_012330.4(KAT6B):c.2958G>C (p.Arg986Ser)	rs1845383324
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=)	rs886041207
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del)	rs201769534
NM_012330.4(KAT6B):c.3273_3275del (p.Glu1104del)	rs1564626392
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met)	rs755451488
NM_012330.4(KAT6B):c.3349C>T (p.Gln1117Ter)	rs1554843977
NM_012330.4(KAT6B):c.4660G>A (p.Glu1554Lys)	rs761295315
NM_012330.4(KAT6B):c.466dup (p.Ala156fs)	rs1841873265
NM_012330.4(KAT6B):c.5831_5832del (p.Tyr1944fs)	rs1846247159

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