ClinVar Miner

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

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Gene type:
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Total variants: 27
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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.353T>G (p.Leu118Arg) rs113056079 0.01720
NM_001807.6(CEL):c.2064C>G (p.Gly688=) rs373329036 0.00828
NM_001807.6(CEL):c.432G>A (p.Leu144=) rs115568146 0.00410
NM_001807.6(CEL):c.417C>T (p.Phe139=) rs200157916 0.00224
NM_001807.6(CEL):c.1966G>C (p.Ala656Pro) rs587780309 0.00172
NM_001807.6(CEL):c.554G>A (p.Arg185Gln) rs141665160 0.00076
NM_001807.6(CEL):c.54G>A (p.Ala18=) rs539606155 0.00061
NM_001807.6(CEL):c.347G>A (p.Arg116Gln) rs199675811 0.00036
NM_001807.6(CEL):c.878C>T (p.Pro293Leu) rs201066180 0.00020
NM_001807.6(CEL):c.1449C>T (p.Ala483=) rs372739809 0.00016
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.2092T>G (p.Ser698Ala) rs587780310 0.00010
NM_001807.6(CEL):c.998T>C (p.Ile333Thr) rs368511384 0.00004
NM_001807.6(CEL):c.1333C>G (p.Pro445Ala) rs751702926 0.00002
NM_001807.6(CEL):c.400G>A (p.Gly134Ser) rs377284693 0.00002
NM_001807.6(CEL):c.178A>G (p.Lys60Glu) rs1433124386 0.00001
NM_001807.6(CEL):c.979G>A (p.Ala327Thr) rs751119069 0.00001
NM_001807.6(CEL):c.-13G>A rs2119054429
NM_001807.6(CEL):c.1932G>C (p.Gly644=) rs587780307
NM_001807.6(CEL):c.1960T>G (p.Ser654Ala) rs587780308
NM_001807.6(CEL):c.61G>T (p.Ala21Ser) rs558100781
NM_001807.6(CEL):c.687C>T (p.Asn229=) rs1554732495
NM_001807.6(CEL):c.723C>T (p.Gly241=)
NM_001807.6(CEL):c.7C>T (p.Arg3Cys) rs201383133
NM_001807.6(CEL):c.99G>C (p.Val33=) rs199971842

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