ClinVar Miner

List of variants in gene combination CHKB, CHKB-CPT1B reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005198.5(CHKB):c.249C>T (p.Phe83=) rs180979987 0.00176
NM_005198.5(CHKB):c.149A>G (p.Tyr50Cys) rs138205828 0.00169
NM_005198.5(CHKB):c.457T>C (p.Leu153=) rs146693439 0.00138
NM_005198.5(CHKB):c.670A>C (p.Asn224His) rs149858290 0.00088
NM_005198.5(CHKB):c.597C>T (p.Ile199=) rs146409721 0.00034
NM_005198.5(CHKB):c.501T>G (p.Ile167Met) rs199704510 0.00012
NM_005198.5(CHKB):c.516G>A (p.Ala172=) rs200220080 0.00001
NM_005198.5(CHKB):c.582-13_582-11del rs766816072

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