ClinVar Miner

List of variants in gene KAT6B reported as pathogenic for Ohdo syndrome and variants

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_012330.4(KAT6B):c.2299C>T (p.His767Tyr)
NM_012330.4(KAT6B):c.3018del (p.Glu1007fs) rs199470468
NM_012330.4(KAT6B):c.3041_3042del (p.Gln1014fs)
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) rs886041207
NM_012330.4(KAT6B):c.3216del (p.Glu1073fs) rs1554843829
NM_012330.4(KAT6B):c.3477_3480dup (p.Asp1161delinsLeuTer)
NM_012330.4(KAT6B):c.3606_3609del (p.Thr1203fs)
NM_012330.4(KAT6B):c.3664+1G>A rs1057516033

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