List of variants in gene KAT6B reported as likely pathogenic for blepharophimosis - intellectual disability syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_012330.4(KAT6B):c.130A>T (p.Lys44Ter)
NM_012330.4(KAT6B):c.1A>G (p.Met1Val)
NM_012330.4(KAT6B):c.3022-5C>G	rs2134165271
NM_012330.4(KAT6B):c.3246del (p.Glu1083fs)
NM_012330.4(KAT6B):c.3256G>T (p.Glu1086Ter)	rs751215527
NM_012330.4(KAT6B):c.3962_3963del (p.Gln1321fs)	rs863224883
NM_012330.4(KAT6B):c.4089_4092del (p.Glu1364fs)	rs1846092532
NM_012330.4(KAT6B):c.4096G>T (p.Glu1366Ter)
NM_012330.4(KAT6B):c.4391_4392del (p.Val1464fs)	rs2134240152
NM_012330.4(KAT6B):c.4506del (p.Asp1503fs)	rs2134241204
NM_012330.4(KAT6B):c.4554_4555dup (p.Asn1519fs)	rs1554845880

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