ClinVar Miner

List of variants in gene combination CHKB, CHKB-CPT1B reported as likely benign by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005198.5(CHKB):c.333+10G>T rs86337 0.59693
NM_005198.5(CHKB):c.216C>T (p.Tyr72=) rs80067609 0.01782
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg) rs141381896 0.00317
NM_005198.5(CHKB):c.670A>C (p.Asn224His) rs149858290 0.00088

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