ClinVar Miner

List of variants studied for Ohdo syndrome and variants by MVZ Medizinische Genetik Mainz

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
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_012330.4(KAT6B):c.1040dup (p.Asn347fs)
NM_012330.4(KAT6B):c.2154del (p.Tyr719fs)
NM_012330.4(KAT6B):c.4237G>T (p.Glu1413Ter)

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