List of variants in gene CEP55 studied for autosomal recessive disease

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_018131.5(CEP55):c.1191+89A>G	rs7068719	0.97891
NM_018131.5(CEP55):c.1133A>T (p.His378Leu)	rs2293277	0.62798
NM_018131.5(CEP55):c.1277C>G (p.Pro426Arg)	rs200014799	0.00024
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)	rs141458677	0.00019
NM_018131.5(CEP55):c.70G>A (p.Glu24Lys)	rs149119564	0.00015
NM_018131.5(CEP55):c.993+3A>C	rs572584581	0.00004
NM_018131.5(CEP55):c.1274C>A (p.Ser425Ter)	rs201430235	0.00001
NM_018131.5(CEP55):c.1373A>G (p.His458Arg)	rs753355777	0.00001
NM_018131.5(CEP55):c.190C>T (p.Arg64Ter)	rs146596670
NM_018131.5(CEP55):c.22G>T (p.Asp8Tyr)
NM_018131.5(CEP55):c.379G>A (p.Val127Ile)
NM_018131.5(CEP55):c.514dup (p.Ile172fs)	rs1169095680
NM_018131.5(CEP55):c.807T>G (p.Tyr269Ter)	rs1297300713

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