ClinVar Miner

List of variants in gene CNOT3 reported as pathogenic for intellectual developmental disorder with speech delay, autism, and dysmorphic facies

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_014516.4(CNOT3):c.1127_1145del (p.Ala376fs)
NM_014516.4(CNOT3):c.1155_1168dup (p.Pro390fs)
NM_014516.4(CNOT3):c.1232del (p.Ser411fs)
NM_014516.4(CNOT3):c.1242dup (p.Ser415fs)
NM_014516.4(CNOT3):c.1373dup (p.Ser459fs)
NM_014516.4(CNOT3):c.1395_1399dup (p.Ser467fs)
NM_014516.4(CNOT3):c.1406+1G>A
NM_014516.4(CNOT3):c.1473_1474del (p.Gly493fs) rs1600471396
NM_014516.4(CNOT3):c.1538_1541del (p.Ser513fs)
NM_014516.4(CNOT3):c.1579C>T (p.Gln527Ter)
NM_014516.4(CNOT3):c.169C>T (p.Arg57Trp) rs2074547544
NM_014516.4(CNOT3):c.1705+2T>G
NM_014516.4(CNOT3):c.1706-2A>G rs2146758722
NM_014516.4(CNOT3):c.1836_1837insATCA (p.Tyr613fs)
NM_014516.4(CNOT3):c.1865G>A (p.Trp622Ter)
NM_014516.4(CNOT3):c.1866G>A (p.Trp622Ter) rs1600501018
NM_014516.4(CNOT3):c.1892_1893del (p.Asp630_Ser631insTer)
NM_014516.4(CNOT3):c.1893_1894del (p.Glu632fs)
NM_014516.4(CNOT3):c.1904+2T>C
NM_014516.4(CNOT3):c.1926_1927del (p.Cys643fs) rs1600504088
NM_014516.4(CNOT3):c.2043_2050del (p.Lys682fs)
NM_014516.4(CNOT3):c.2080C>T (p.Gln694Ter) rs1600514073
NM_014516.4(CNOT3):c.2089C>T (p.Arg697Ter)
NM_014516.4(CNOT3):c.286C>T (p.Arg96Ter)
NM_014516.4(CNOT3):c.387+1G>A
NM_014516.4(CNOT3):c.563G>A (p.Arg188His) rs2146595244
NM_014516.4(CNOT3):c.566del (p.Met189fs)
NM_014516.4(CNOT3):c.586del (p.Leu196fs)
NM_014516.4(CNOT3):c.70C>T (p.Gln24Ter)
NM_014516.4(CNOT3):c.732dup (p.Ser245fs) rs753475896
NM_014516.4(CNOT3):c.821_825dup (p.Asn276fs)
NM_014516.4(CNOT3):c.91A>T (p.Lys31Ter)
NM_014516.4(CNOT3):c.929_939del (p.Ser310fs) rs2146638782

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