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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 16q21(chr16:58587636-58610536)x1
NM_016284.5(CNOT1):c.2698C>T (p.Arg900Cys)	rs2040599000
NM_016284.5(CNOT1):c.3055C>T (p.Gln1019Ter)
NM_016284.5(CNOT1):c.434-2A>G
NM_016284.5(CNOT1):c.4432C>T (p.Arg1478Cys)	rs1567396193
NM_016284.5(CNOT1):c.608_611del (p.Ile203fs)	rs1064795181
NM_016284.5(CNOT1):c.76C>T (p.Arg26Ter)	rs1597562609
NM_016284.5(CNOT1):c.97C>T (p.Gln33Ter)	rs2042382430

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