ClinVar Miner

List of variants studied for autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter) rs786200961
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) rs786200959
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs) rs786200952
NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter) rs138944476

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