ClinVar Miner

List of variants in gene CEL reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001807.6(CEL):c.1833G>C (p.Gly611=) rs1211933243 0.00547
NM_001807.6(CEL):c.402C>G (p.Gly134=) rs150358550 0.00392
NM_001807.6(CEL):c.1716C>G (p.Pro572=) rs200152972 0.00108
NM_001807.6(CEL):c.1689A>G (p.Thr563=) rs199941432 0.00079
NM_001807.6(CEL):c.1692G>T (p.Gly564=) rs200716123 0.00079
NM_001807.6(CEL):c.1335C>T (p.Pro445=) rs371892814 0.00073
NM_001807.6(CEL):c.1485-8C>T rs185188893 0.00072
NM_001807.6(CEL):c.777+7G>A rs200749469 0.00038
NM_001807.6(CEL):c.1677T>C (p.Pro559=) rs527908529 0.00017
NM_001807.6(CEL):c.358G>A (p.Val120Ile) rs201336247 0.00011
NM_001807.6(CEL):c.2092T>G (p.Ser698Ala) rs587780310 0.00010
NM_001807.6(CEL):c.670-4G>A rs371303105 0.00006
NM_001807.6(CEL):c.895+2dup rs1027973097 0.00002
NM_001807.6(CEL):c.1659C>G (p.Thr553=) rs78256304
NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer) rs2119070291
NM_001807.6(CEL):c.718A>G (p.Ser240Gly)
NM_001807.6(CEL):c.850C>G (p.Arg284Gly) rs369868891
NM_001807.6(CEL):c.99G>C (p.Val33=) rs199971842

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