List of variants in gene CEP135 reported as pathogenic for Microcephaly 8, primary, autosomal recessive

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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
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)	rs752140135	0.00006
NM_025009.5(CEP135):c.2722C>T (p.Arg908Ter)	rs186530606	0.00001
NM_025009.5(CEP135):c.2863C>T (p.Arg955Ter)	rs1730824213	0.00001
NM_025009.5(CEP135):c.1376_1379del (p.Lys459fs)	rs777869134
NM_025009.5(CEP135):c.1473+1G>A	rs1085307120
NM_025009.5(CEP135):c.2930_2931del (p.Leu977fs)	rs1553895368
NM_025009.5(CEP135):c.3118_3121del (p.Asn1040fs)	rs751437333
NM_025009.5(CEP135):c.970del (p.Gln324fs)	rs202247811

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