ClinVar Miner

List of variants in gene CEL reported as likely benign by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001807.6(CEL):c.1710C>T (p.Pro570=) rs488087 0.25447
NM_001807.6(CEL):c.417C>T (p.Phe139=) rs200157916 0.00224
NM_001807.6(CEL):c.554G>A (p.Arg185Gln) rs141665160 0.00075
NM_001807.6(CEL):c.1449C>T (p.Ala483=) rs372739809 0.00015
NM_001807.6(CEL):c.132T>C (p.Gly44=) rs543591885 0.00014
NM_001807.6(CEL):c.1998C>G (p.Gly666=) rs35171271 0.00013
NM_001807.6(CEL):c.723C>T (p.Gly241=) rs770547110 0.00001
NM_001807.6(CEL):c.99G>C (p.Val33=) rs199971842

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