List of variants in gene CNOT1 reported as likely pathogenic for Vissers-Bodmer syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_016284.5(CNOT1):c.1004_1005dup (p.Trp336fs)	rs2151976617
NM_016284.5(CNOT1):c.102+2T>C	rs2042382246
NM_016284.5(CNOT1):c.2560C>T (p.Arg854Ter)
NM_016284.5(CNOT1):c.2853T>G (p.Tyr951Ter)
NM_016284.5(CNOT1):c.3202-2dup
NM_016284.5(CNOT1):c.3750+5G>A	rs2543916472
NM_016284.5(CNOT1):c.3754_3756dup (p.Phe1252_Arg1253insPhe)	rs2543913901
NM_016284.5(CNOT1):c.439C>T (p.Gln147Ter)
NM_016284.5(CNOT1):c.550del (p.Leu184fs)	rs2544111033
NM_016284.5(CNOT1):c.6196delinsAA (p.Gln2066fs)	rs2151901930

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