ClinVar Miner

List of variants studied for intellectual developmental disorder with speech delay, autism, and dysmorphic facies by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014516.4(CNOT3):c.1473_1474del (p.Gly493fs) rs1600471396
NM_014516.4(CNOT3):c.1866G>A (p.Trp622Ter) rs1600501018
NM_014516.4(CNOT3):c.1926_1927del (p.Cys643fs) rs1600504088
NM_014516.4(CNOT3):c.2080C>T (p.Gln694Ter) rs1600514073
NM_014516.4(CNOT3):c.732dup (p.Ser245fs) rs753475896

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