ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_012330.4(KAT6B):c.1030C>T (p.Arg344Ter)
NM_012330.4(KAT6B):c.1993+1G>A rs2133733164
NM_012330.4(KAT6B):c.2510del (p.Cys837fs) rs1842737894
NM_012330.4(KAT6B):c.2598G>A (p.Arg866=) rs1842975561
NM_012330.4(KAT6B):c.3018del (p.Glu1007fs) rs199470468
NM_012330.4(KAT6B):c.3022-1G>A rs1845433207
NM_012330.4(KAT6B):c.3041_3042del (p.Gln1014fs) rs1589824355
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) rs886041207
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) rs1554843815
NM_012330.4(KAT6B):c.3216del (p.Glu1073fs) rs1554843829
NM_012330.4(KAT6B):c.3217G>T (p.Glu1073Ter) rs761860621
NM_012330.4(KAT6B):c.3223G>T (p.Glu1075Ter)
NM_012330.4(KAT6B):c.3253del (p.Glu1085fs) rs1554843880
NM_012330.4(KAT6B):c.3477_3480dup (p.Asp1161delinsLeuTer) rs1589831585
NM_012330.4(KAT6B):c.3606_3609del (p.Thr1203fs) rs1589832003
NM_012330.4(KAT6B):c.3664+1G>A rs1057516033
NM_012330.4(KAT6B):c.3998dup (p.Ser1334fs)
NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter) rs199470476
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.4298_4304delinsTC (p.His1433fs) rs1589842816
NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs) rs199470479
NM_012330.4(KAT6B):c.4461_4470del (p.Ser1487fs) rs2134240789
NM_012330.4(KAT6B):c.4584del (p.Glu1529fs) rs1554845902
NM_012330.4(KAT6B):c.4592del (p.Asn1531fs)
NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs) rs199470480
NM_012330.4(KAT6B):c.5064_5071delinsCACA (p.Met1690fs) rs387907364
NM_012330.4(KAT6B):c.5167dup (p.Gln1723fs) rs1589845386
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) rs199470482
NM_012330.4(KAT6B):c.5302C>T (p.Gln1768Ter)
NM_012330.4(KAT6B):c.5356G>T (p.Glu1786Ter)
NM_012330.4(KAT6B):c.5370_5373dup (p.Ile1792fs) rs199470483
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) rs199470484
NM_012330.4(KAT6B):c.5646del (p.Asn1883fs)
NM_012330.4(KAT6B):c.847-2A>G rs1841745686

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