List of variants in gene CEP57 reported as benign for chromosomal disorder

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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.1342A>G (p.Arg448Gly)	rs644799	0.28044
NM_014679.5(CEP57):c.753G>A (p.Pro251=)	rs11742	0.03344
NM_014679.5(CEP57):c.798A>G (p.Pro266=)	rs61903295	0.02940
NM_014679.5(CEP57):c.807+3G>A	rs181776180	0.00725
NM_014679.5(CEP57):c.333G>C (p.Gln111His)	rs117321017	0.00613
NM_014679.5(CEP57):c.979A>G (p.Ile327Val)	rs35604386	0.00453
NM_014679.5(CEP57):c.1036T>C (p.Leu346=)	rs34254650	0.00314
NM_014679.5(CEP57):c.677G>A (p.Arg226His)	rs143711180	0.00168
NM_014679.5(CEP57):c.1272+7_1272+8del	rs1491504497	0.00071
NM_014679.5(CEP57):c.807+8G>A	rs117602509	0.00029
NM_014679.5(CEP57):c.382+20T>G	rs140437159	0.00009
NM_014679.5(CEP57):c.622-9dup	rs745634452

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