ClinVar Miner

List of variants in gene CCBE1 reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_133459.4(CCBE1):c.*2460T>C rs76216795 0.00485
NM_133459.4(CCBE1):c.195G>A (p.Glu65=) rs116673304 0.00475
NM_133459.4(CCBE1):c.*337T>G rs80296667 0.00389
NM_133459.4(CCBE1):c.*1434C>G rs144479124 0.00377
NM_133459.4(CCBE1):c.*2158C>T rs376015917 0.00376
NM_133459.4(CCBE1):c.*3182T>G rs8084216 0.00371
NM_133459.4(CCBE1):c.*4934G>T rs145940035 0.00353
NM_133459.4(CCBE1):c.*378G>A rs141921214 0.00289
NM_133459.4(CCBE1):c.*4498T>C rs146222689 0.00247
NM_133459.4(CCBE1):c.*2178C>T rs535062443 0.00239
NM_133459.4(CCBE1):c.*3080A>G rs147056520 0.00225
NM_133459.4(CCBE1):c.*3931G>A rs187148297 0.00091
NM_133459.4(CCBE1):c.*3710A>G rs371219962 0.00061
NM_133459.4(CCBE1):c.557A>G (p.His186Arg) rs115071386 0.00036
NM_133459.4(CCBE1):c.*1942T>C rs138525348 0.00012
NM_133459.4(CCBE1):c.541C>T (p.Pro181Ser) rs116596858 0.00001
NM_133459.4(CCBE1):c.*2951_*2952dup rs11424706
NM_133459.4(CCBE1):c.*3853C>T rs145393328
NM_133459.4(CCBE1):c.*519dup rs35018840

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