List of variants in gene CERKL reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	rs121909398	0.00039
NM_201548.5(CERKL):c.481+2T>G	rs753994107	0.00002
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)	rs1187839124	0.00001
NM_201548.5(CERKL):c.1073+3_1073+6del	rs1553513437
NM_201548.5(CERKL):c.1086_1087del (p.Cys362_Glu363delinsTer)	rs776727320
NM_201548.5(CERKL):c.323_327del (p.Cys107_Ser108insTer)	rs1685567937

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