List of variants in gene CEP57 reported as pathogenic for Mosaic variegated aneuploidy syndrome 2

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_014679.5(CEP57):c.1015C>T (p.Arg339Ter)	rs1399711421	0.00001
NM_014679.5(CEP57):c.451C>T (p.Arg151Ter)	rs771182933	0.00001
NC_000011.9:g.(?_95523863)_(95564420_?)del
NM_014679.5(CEP57):c.1117C>T (p.Gln373Ter)	rs1565334264
NM_014679.5(CEP57):c.241C>T (p.Arg81Ter)	rs387906977
NM_014679.5(CEP57):c.312_313del (p.Tyr104_Lys105delinsTer)
NM_014679.5(CEP57):c.382+2T>C	rs1862141371
NM_014679.5(CEP57):c.520_521del (p.Glu174fs)	rs1565326373
NM_014679.5(CEP57):c.523C>T (p.Arg175Ter)	rs775752088
NM_014679.5(CEP57):c.778A>T (p.Lys260Ter)	rs773014425
NM_014679.5(CEP57):c.915_925dup (p.Leu309fs)	rs1166323407
NM_014679.5(CEP57):c.973C>T (p.Arg325Ter)

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