ClinVar Miner

Variants in gene combination CHKB, CHKB-CPT1B with conflicting interpretations reported as "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: 12
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HGVS dbSNP gnomAD frequency
NM_005198.5(CHKB):c.457T>C (p.Leu153=) rs146693439 0.00138
NM_005198.5(CHKB):c.263C>T (p.Pro88Leu) rs146163970 0.00022
NM_005198.5(CHKB):c.708C>T (p.Val236=) rs141934594 0.00008
NM_005198.5(CHKB):c.219C>T (p.Pro73=) rs751273046 0.00007
NM_005198.5(CHKB):c.927+10C>G rs549171476 0.00003
NM_005198.5(CHKB):c.745T>C (p.Leu249=) rs760310819 0.00002
NM_005198.5(CHKB):c.1031+12G>A rs777277938 0.00001
NM_005198.5(CHKB):c.1114-6C>T rs151123092 0.00001
NM_005198.5(CHKB):c.138G>T (p.Glu46Asp) rs752292240 0.00001
NM_005198.5(CHKB):c.678-12A>G rs749813559 0.00001
NM_005198.5(CHKB):c.447+12G>A rs749454476
NM_005198.5(CHKB):c.582-13_582-11del rs766816072

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