ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_201548.5(CERKL):c.820+9G>A rs189638090 0.00163
NM_201548.5(CERKL):c.735G>C (p.Leu245=) rs140898616 0.00093
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu) rs146913105 0.00076
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser) rs151110889 0.00053
NM_201548.5(CERKL):c.60G>A (p.Glu20=) rs556744419 0.00025
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158 0.00020

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