ClinVar Miner

List of variants in gene AP5Z1 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.932-159A>G rs73671922 0.27658
NM_014855.3(AP5Z1):c.41+141T>G rs3750015 0.27076
NM_014855.3(AP5Z1):c.41+216T>C rs3750014 0.26942
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=) rs17135121 0.22358
NM_014855.3(AP5Z1):c.1595+238T>C rs73671925 0.19060
NM_014855.3(AP5Z1):c.1707+46T>C rs7803727 0.18779
NM_014855.3(AP5Z1):c.1805+181T>C rs749404 0.18233
NM_014855.3(AP5Z1):c.1133-195G>T rs7801122 0.16648
NM_014855.3(AP5Z1):c.1311+280T>C rs12701943 0.13802
NM_014855.3(AP5Z1):c.1595+234A>G rs77761283 0.10879
NC_000007.14:g.4775504C>A rs35684868 0.09593
NM_014855.3(AP5Z1):c.1454+73T>C rs59441267 0.09521
NM_014855.3(AP5Z1):c.512-7A>G rs73305371 0.07873
NM_014855.3(AP5Z1):c.1595+241C>T rs73671926 0.07142
NM_014855.3(AP5Z1):c.*45A>G rs12154545 0.06846
NM_014855.3(AP5Z1):c.1312-205T>G rs112199778 0.06792
NM_014855.3(AP5Z1):c.367-60T>C rs77086996 0.06493
NM_014855.3(AP5Z1):c.*276T>C rs12154622 0.06486
NM_014855.3(AP5Z1):c.1312-105G>C rs73305384 0.06462
NM_014855.3(AP5Z1):c.1806-135C>T rs749405 0.06408
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.*205G>A rs73305394 0.05882
NM_014855.3(AP5Z1):c.1312-169G>A rs112887769 0.05629
NM_014855.3(AP5Z1):c.366+170G>A rs76826075 0.05463
NM_014855.3(AP5Z1):c.1312-298A>C rs73305380 0.05326
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.511+87G>T rs11764272 0.04940
NM_014855.3(AP5Z1):c.511+95G>T rs11764275 0.04937
NM_014855.3(AP5Z1):c.1595+47G>A rs3816851 0.04921
NM_014855.3(AP5Z1):c.1708-171G>A rs12154663 0.04806
NM_014855.3(AP5Z1):c.42-225T>C rs17135115 0.04792
NM_014855.3(AP5Z1):c.*250T>G rs12154621 0.04580
NM_014855.3(AP5Z1):c.1455-89A>C rs73305386 0.04475
NM_014855.3(AP5Z1):c.1939-9C>T rs73305392 0.04460
NM_014855.3(AP5Z1):c.621+168G>A rs62453209 0.04421
NM_014855.3(AP5Z1):c.1311+132G>A rs79109928 0.04199
NM_014855.3(AP5Z1):c.932-43T>C rs116402929 0.04144
NM_014855.3(AP5Z1):c.790+129A>G rs116576980 0.03993
NM_014855.3(AP5Z1):c.791-110C>T rs73305374 0.03913
NM_014855.3(AP5Z1):c.1707+210G>A rs73305389 0.03106
NM_014855.3(AP5Z1):c.791-228C>T rs74498274 0.03059
NM_014855.3(AP5Z1):c.1805+125A>C rs115256152 0.02905
NM_014855.3(AP5Z1):c.1595+103T>G rs80144866 0.02569
NC_000007.14:g.4775501G>A rs141680616 0.02534
NM_014855.3(AP5Z1):c.1312-319A>C rs115756912 0.02514
NM_014855.3(AP5Z1):c.366+242C>G rs115809720 0.02507
NM_014855.3(AP5Z1):c.1806-121C>T rs76100044 0.02480
NM_014855.3(AP5Z1):c.1554C>T (p.Phe518=) rs77560694 0.02284
NM_014855.3(AP5Z1):c.*68G>A rs73305393 0.01965
NM_014855.3(AP5Z1):c.367-310C>G rs116494599 0.01926
NM_014855.3(AP5Z1):c.1132+259G>A rs10230906 0.01843
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met) rs11766611 0.01795
NM_014855.3(AP5Z1):c.367-305C>T rs139135247 0.01744
NM_014855.3(AP5Z1):c.1529G>A (p.Arg510Gln) rs77890266 0.01561
NM_014855.3(AP5Z1):c.1369C>T (p.Leu457=) rs111358719 0.01503
NM_014855.3(AP5Z1):c.*1670G>C rs149234202 0.00696
NM_014855.3(AP5Z1):c.*92G>A rs112283999 0.00696
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.1557A>G (p.Gln519=) rs201687417 0.00341
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593 0.00201
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=) rs368571200 0.00030
NC_000007.14:g.4775417G>A rs113403836
NC_000007.14:g.4775532T>G rs144712975
NM_014855.3(AP5Z1):c.1132+94_1132+96del rs74274130
NM_014855.3(AP5Z1):c.1132+95_1132+96dup rs74274130
NM_014855.3(AP5Z1):c.1132+96dup rs74274130
NM_014855.3(AP5Z1):c.1133-255C>T rs77641479
NM_014855.3(AP5Z1):c.1133-30C>T rs78201739
NM_014855.3(AP5Z1):c.1595+152C>T rs17829969
NM_014855.3(AP5Z1):c.1596-66G>A rs3750013
NM_014855.3(AP5Z1):c.1708-92C>G rs12155405
NM_014855.3(AP5Z1):c.1805+148_1805+155del rs3031276
NM_014855.3(AP5Z1):c.1805+175_1805+178del rs148507453
NM_014855.3(AP5Z1):c.1805+197_1805+198insCT rs3031279
NM_014855.3(AP5Z1):c.1805+69_1805+80del rs200009158
NM_014855.3(AP5Z1):c.1806-12C>T rs78959612
NM_014855.3(AP5Z1):c.1806-42T>G rs907718
NM_014855.3(AP5Z1):c.2209_2220del (p.Ser737_Ser740del) rs139155501
NM_014855.3(AP5Z1):c.367-169G>C rs79764270
NM_014855.3(AP5Z1):c.41+285C>G rs114742032
NM_014855.3(AP5Z1):c.622-111G>A rs116181510

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