ClinVar Miner

List of variants in gene AP5Z1 reported as benign for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.*2623A>C rs2880933 0.31879
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=) rs17135121 0.22358
NM_014855.3(AP5Z1):c.1707+11T>C rs3750012 0.17011
NM_014855.3(AP5Z1):c.512-7A>G rs73305371 0.07873
NM_014855.3(AP5Z1):c.*45A>G rs12154545 0.06846
NM_014855.3(AP5Z1):c.970-13C>T rs73305376 0.06374
NM_014855.3(AP5Z1):c.1377C>T (p.Asp459=) rs17135128 0.06038
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln) rs11772411 0.05021
NM_014855.3(AP5Z1):c.1131C>T (p.His377=) rs11768079 0.04978
NM_014855.3(AP5Z1):c.1939-9C>T rs73305392 0.04460
NM_014855.3(AP5Z1):c.*659G>A rs140612456 0.03865
NM_014855.3(AP5Z1):c.*2841A>G rs62453211 0.03480
NM_014855.3(AP5Z1):c.*2599T>C rs143539039 0.02522
NM_014855.3(AP5Z1):c.1554C>T (p.Phe518=) rs77560694 0.02284
NM_014855.3(AP5Z1):c.1708-14C>T rs118139547 0.02183
NM_014855.3(AP5Z1):c.*2849G>T rs149076549 0.02042
NM_014855.3(AP5Z1):c.*2501G>A rs115452328 0.01978
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met) rs11766611 0.01795
NM_014855.3(AP5Z1):c.1529G>A (p.Arg510Gln) rs77890266 0.01561
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His) rs11549840 0.01556
NM_014855.3(AP5Z1):c.*1594C>A rs138654444 0.01555
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=) rs117666541 0.01551
NM_014855.3(AP5Z1):c.1369C>T (p.Leu457=) rs111358719 0.01503
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=) rs77393809 0.01379
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys) rs11549839 0.01367
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys) rs115454162 0.01129
NM_014855.3(AP5Z1):c.1708-5C>T rs184752711 0.00977
NM_014855.3(AP5Z1):c.1312-20C>T rs114137831 0.00915
NM_014855.3(AP5Z1):c.1132+14G>T rs139019097 0.00792
NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr) rs183580097 0.00602
NM_014855.3(AP5Z1):c.791-5C>T rs73671921 0.00595
NM_014855.3(AP5Z1):c.369T>C (p.Gly123=) rs182431279 0.00474
NM_014855.3(AP5Z1):c.428G>A (p.Arg143Gln) rs186993311 0.00386
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.1133-19G>C rs148117172 0.00320
NM_014855.3(AP5Z1):c.900C>T (p.Tyr300=) rs146915189 0.00319
NM_014855.3(AP5Z1):c.774G>A (p.Pro258=) rs373689894 0.00288
NM_014855.3(AP5Z1):c.768G>A (p.Glu256=) rs377532483 0.00287
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) rs200957609 0.00278
NM_014855.3(AP5Z1):c.41+16G>A rs139999461 0.00247
NM_014855.3(AP5Z1):c.1155G>A (p.Ser385=) rs370926189 0.00112
NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=) rs182411153 0.00105
NM_014855.3(AP5Z1):c.1434G>A (p.Ala478=) rs75185826 0.00084
NM_014855.3(AP5Z1):c.1312-19C>T rs186277796 0.00073
NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met) rs200280538 0.00065
NM_014855.3(AP5Z1):c.588C>T (p.Ser196=) rs146665638 0.00053
NM_014855.3(AP5Z1):c.1566G>T (p.Leu522=) rs563984280 0.00047
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.490A>G (p.Ser164Gly) rs202169962 0.00027
NM_014855.3(AP5Z1):c.790+18A>T rs150460713 0.00022
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.1454+13C>T rs763660409 0.00006
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.1788C>T (p.Tyr596=) rs768113900 0.00004
NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=) rs113014863
NM_014855.3(AP5Z1):c.1595+8del rs2115120465
NM_014855.3(AP5Z1):c.1707+25dup rs529746844
NM_014855.3(AP5Z1):c.1806-12C>T rs78959612
NM_014855.3(AP5Z1):c.1965G>C (p.Ser655=) rs543467648
NM_014855.3(AP5Z1):c.2153+8G>A rs189564026
NM_014855.3(AP5Z1):c.2209_2220del (p.Ser737_Ser740del) rs139155501
NM_014855.3(AP5Z1):c.2301G>A (p.Val767=)
NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala) rs188569082
NM_014855.3(AP5Z1):c.2328C>A (p.Ser776Arg) rs192794637

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.