ClinVar Miner

List of variants reported as not provided for Ohdo syndrome and variants by GeneReviews

Included ClinVar conditions (6):

Blepharophimosis - intellectual disability syndrome, MKB type
Blepharophimosis - intellectual disability syndrome, SBBYS type
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type
X-linked intellectual disability with marfanoid habitus; Blepharophimosis - intellectual disability syndrome, MKB type; FG syndrome
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_012330.4(KAT6B):c.2299C>T (p.His767Tyr)	rs1589750251
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=)	rs886041207
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs)	rs199470477
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs)	rs199470482
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter)	rs199470484

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