ClinVar Miner

List of variants studied for blepharophimosis - intellectual disability syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.1529A>G (p.Asp510Gly) rs1820557069
NM_012330.4(KAT6B):c.3256G>T (p.Glu1086Ter) rs751215527
NM_012330.4(KAT6B):c.4461_4470del (p.Ser1487fs) rs2134240789
NM_012330.4(KAT6B):c.4554_4555dup (p.Asn1519fs) rs1554845880

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