ClinVar Miner

List of variants in gene CEP78 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001330691.3(CEP78):c.84G>C (p.Ser28=) rs10867166 0.31528
NM_001330691.3(CEP78):c.253+8G>A rs13292584 0.31521
NM_001330691.3(CEP78):c.1542C>T (p.Ile514=) rs1057650 0.09570
NM_001330691.3(CEP78):c.2007T>C (p.Cys669=) rs57666183 0.02078
NM_001330691.3(CEP78):c.604-6T>G rs17064247 0.01848
NM_001330691.3(CEP78):c.1788A>G (p.Gln596=) rs61730341 0.01018
NM_001330691.3(CEP78):c.955G>C (p.Glu319Gln) rs61730338 0.00964
NM_001330691.3(CEP78):c.1780C>A (p.Gln594Lys) rs61730342 0.00328
NM_001330691.3(CEP78):c.1566C>T (p.Gly522=) rs199743218 0.00281
NM_001330691.3(CEP78):c.2077A>C (p.Arg693=) rs61730339 0.00227
NM_001330691.3(CEP78):c.1846-1G>C rs146563928 0.00193
NM_001330691.3(CEP78):c.1626-6dup rs542161202 0.00159
NM_001330691.3(CEP78):c.898T>C (p.Ser300Pro) rs72743760 0.00158
NM_001330691.3(CEP78):c.103C>T (p.Arg35Cys) rs200483715 0.00128
NM_001330691.3(CEP78):c.1194A>G (p.Ala398=) rs138501486 0.00084
NM_001330691.3(CEP78):c.1214C>T (p.Pro405Leu) rs539146413 0.00014
NM_001330691.3(CEP78):c.491G>A (p.Gly164Asp) rs200752089 0.00012
NM_001330691.3(CEP78):c.1273G>C (p.Val425Leu) rs375721961 0.00006
NM_001330691.3(CEP78):c.2107+10C>G rs374257343 0.00004
NM_001330691.3(CEP78):c.284G>A (p.Arg95His) rs371010271 0.00004
NM_001330691.3(CEP78):c.120G>C (p.Glu40Asp) rs746861398 0.00002
NM_001330691.3(CEP78):c.1797+5A>G rs750594582 0.00001
NM_001330691.3(CEP78):c.485A>G (p.Asp162Gly) rs1826169363

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