ClinVar Miner

Variants in gene CERKL with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_201548.5(CERKL):c.1463A>G (p.Glu488Gly) rs35955809 0.01014
NM_201548.5(CERKL):c.677+566G>T rs10185262 0.00821
NM_201548.5(CERKL):c.313C>T (p.Arg105Trp) rs149078111 0.00370
NM_201548.5(CERKL):c.66C>G (p.Pro22=) rs199762900 0.00287
NM_201548.5(CERKL):c.783T>C (p.Pro261=) rs77741297 0.00158
NM_201548.5(CERKL):c.102G>T (p.Thr34=) rs149346187 0.00034
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158 0.00020
NM_201548.5(CERKL):c.239-4dup rs201864646

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