List of variants in gene CEP78 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001330691.3(CEP78):c.1251+5G>A	rs745750156	0.00003
NM_001330691.3(CEP78):c.1447C>T (p.Arg483Ter)	rs1210581905	0.00001
NM_001330691.3(CEP78):c.449T>C (p.Leu150Ser)	rs761661253	0.00001
NM_001330691.3(CEP78):c.830T>C (p.Leu277Pro)	rs751411534	0.00001
CEP78, PRO392LEU
NM_001330691.3(CEP78):c.1459-1G>T	rs2118460550
NM_001330691.3(CEP78):c.1626-2A>G	rs1057518753
NM_001330691.3(CEP78):c.440C>T (p.Ser147Leu)	rs759754640
NM_001330691.3(CEP78):c.499+1G>T	rs1057517691
NM_001330691.3(CEP78):c.499+5G>A	rs1057517693
NM_001330691.3(CEP78):c.534del (p.Lys179fs)	rs1057517695
NM_001330691.3(CEP78):c.633del (p.Trp212fs)	rs1057517692
NM_001330691.3(CEP78):c.893-1G>A	rs1057517694

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