ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.1928A>G (p.Asn643Ser) rs1822412202
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
NM_006766.5:c.3411del rs2150857178

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