ClinVar Miner

Variants in gene AP5Z1 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=) rs201687417 0.00341
NM_014855.3(AP5Z1):c.126C>T (p.Leu42=) rs146682319 0.00321
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) rs200957609 0.00278
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=) rs182411153 0.00105
NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met) rs200280538 0.00065
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324 0.00065
NM_014855.3(AP5Z1):c.780C>A (p.Thr260=) rs377507553 0.00046
NM_014855.3(AP5Z1):c.584A>G (p.His195Arg) rs117659667 0.00044
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=) rs368571200 0.00030
NM_014855.3(AP5Z1):c.1473C>G (p.Ser491=) rs370135619 0.00016
NM_014855.3(AP5Z1):c.1953C>T (p.Gly651=) rs200617745 0.00015
NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=) rs60284677 0.00009
NM_014855.3(AP5Z1):c.351C>T (p.Ser117=) rs374912181 0.00006
NM_014855.3(AP5Z1):c.1464G>A (p.Pro488=) rs376913055 0.00004
NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=) rs113014863
NM_014855.3(AP5Z1):c.2153+8G>A rs189564026
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala) rs188569082

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.