ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.1192C>T (p.Gln398Ter) rs2044215489
NM_006766.5(KAT6A):c.3039+1G>A rs1554681382
NM_017934.7(PHIP):c.3631_3634del (p.Gln1211fs) rs1766794792

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