List of variants in gene CEP78 reported as pathogenic for Retinal dystrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NC_000009.12:g.(?_78236350)_(78243637_78246668)del
NM_001330691.3(CEP78):c.1220_1223del (p.Ile407fs)
NM_001330691.3(CEP78):c.1369G>T (p.Glu457Ter)	rs996333495
NM_001330691.3(CEP78):c.1459-1G>T	rs2118460550
NM_001330691.3(CEP78):c.283dup (p.Arg95fs)	rs1826148463
NM_001330691.3(CEP78):c.40del (p.Asp14fs)
NM_001330691.3(CEP78):c.633del (p.Trp212fs)	rs1057517692

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