ClinVar Miner

List of variants in gene combination DUPD1, 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: 10
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NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter) rs199470476
NM_012330.4(KAT6B):c.4203_4204CT[1] (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.4298_4304delinsTC (p.His1433fs)
NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs) rs199470479
NM_012330.4(KAT6B):c.4584del (p.Glu1529fs) rs1554845902
NM_012330.4(KAT6B):c.5064_5071delinsCACA (p.Met1690fs) rs387907364
NM_012330.4(KAT6B):c.5167dup (p.Gln1723fs)
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) rs199470482
NM_012330.4(KAT6B):c.5370_5373dup (p.Ile1792fs) rs199470483
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) rs199470484

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