ClinVar Miner

List of variants in gene AP3D1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_001261826.3(AP3D1):c.2074-178A>G rs2240655 0.81822
NM_001261826.3(AP3D1):c.192+111T>C rs12460763 0.50357
NM_001261826.3(AP3D1):c.156A>C (p.Ile52=) rs25672 0.32480
NM_001261826.3(AP3D1):c.97-135G>A rs12980238 0.32230
NM_001261826.3(AP3D1):c.593-17A>G rs758287 0.31872
NM_001261826.3(AP3D1):c.807-72T>C rs4807203 0.31820
NM_001261826.3(AP3D1):c.193-64G>A rs2240658 0.31564
NM_001261826.3(AP3D1):c.3472+66A>G rs2072306 0.30524
NM_001261826.3(AP3D1):c.2149+44T>C rs2066775 0.30514
NM_001261826.3(AP3D1):c.2001+138C>G rs734727 0.30500
NM_001261826.3(AP3D1):c.2002-123G>A rs9676693 0.30486
NM_001261826.3(AP3D1):c.3135C>T (p.Ser1045=) rs20567 0.30258
NM_001261826.3(AP3D1):c.906+117C>G rs2072305 0.25491
NM_001261826.3(AP3D1):c.3265-62A>G rs2074958 0.25294
NM_001261826.3(AP3D1):c.907-111T>C rs2072304 0.20291
NM_001261826.3(AP3D1):c.1956T>C (p.Arg652=) rs2074960 0.18465
NM_001261826.3(AP3D1):c.2073+288G>A rs11666848 0.18387
NM_001261826.3(AP3D1):c.2002-4A>G rs2240656 0.17747
NM_001261826.3(AP3D1):c.2679+34G>A rs117630602 0.13586
NM_001261826.3(AP3D1):c.1860-19G>A rs114460651 0.13459
NM_001261826.3(AP3D1):c.2150-22G>C rs2066764 0.13023
NM_001261826.3(AP3D1):c.3350+276A>G rs111707404 0.12691
NM_001261826.3(AP3D1):c.955+29T>C rs76578931 0.12688
NM_001261826.3(AP3D1):c.3350+205G>A rs17604924 0.12684
NM_001261826.3(AP3D1):c.3553-276C>G rs141494805 0.12682
NM_001261826.3(AP3D1):c.3264+27A>G rs113684349 0.12678
NM_001261826.3(AP3D1):c.3472+14G>A rs56150334 0.12677
NM_001261826.3(AP3D1):c.2938-66A>G rs75865123 0.12676
NM_001261826.3(AP3D1):c.2938-51C>T rs17604954 0.12674
NM_001261826.3(AP3D1):c.3472+156G>T rs56123473 0.12674
NM_001261826.3(AP3D1):c.2937+17C>T rs55759847 0.12657
NM_001261826.3(AP3D1):c.2986-140G>A rs79288884 0.12644
NM_001261826.3(AP3D1):c.1621G>A (p.Gly541Arg) rs34569645 0.12586
NM_001261826.3(AP3D1):c.3265-31T>A rs77265501 0.12472
NM_001261826.3(AP3D1):c.1102-6G>A rs11667435 0.11100
NM_001261826.3(AP3D1):c.857-50G>A rs75483641 0.10617
NM_001261826.3(AP3D1):c.806+22T>C rs142361260 0.09859
NC_000019.10:g.2151762T>C rs75580960 0.09227
NM_001261826.3(AP3D1):c.2602-106C>T rs2240652 0.07298
NM_001261826.3(AP3D1):c.1860-88A>G rs2240657 0.07057
NM_001261826.3(AP3D1):c.2679+62C>T rs2240651 0.06838
NM_001261826.3(AP3D1):c.97-129G>A rs56694471 0.06414
NM_001261826.3(AP3D1):c.354+10C>G rs61583847 0.05897
NM_001261826.3(AP3D1):c.2349+91C>T rs75691527 0.05310
NM_001261826.3(AP3D1):c.2073+118C>A rs78884357 0.05220
NM_001261826.3(AP3D1):c.2074-56C>T rs75277331 0.05181
NM_001261826.3(AP3D1):c.3350+38C>T rs758286 0.05154
NM_001261826.3(AP3D1):c.956-221G>A rs77671679 0.04397
NM_001261826.3(AP3D1):c.2423+53C>T rs79145059 0.04393
NM_001261826.3(AP3D1):c.2788-47del rs74967342 0.04026
NM_001261826.3(AP3D1):c.2986-168A>G rs75337979 0.04023
NM_001261826.3(AP3D1):c.192+117C>T rs79557571 0.03947
NM_001261826.3(AP3D1):c.593-250T>C rs56862829 0.03886
NM_001261826.3(AP3D1):c.193-79G>A rs45542440 0.03868
NM_001261826.3(AP3D1):c.1101+184G>A rs10413234 0.03774
NM_001261826.3(AP3D1):c.2149+58G>A rs2066779 0.03698
NM_001261826.3(AP3D1):c.3351-274C>T rs77962077 0.03517
NM_001261826.3(AP3D1):c.1713+70C>T rs114871136 0.03490
NM_001261826.3(AP3D1):c.857-156A>G rs10414505 0.03489
NM_001261826.3(AP3D1):c.2601+226G>T rs28403414 0.02671
NM_001261826.3(AP3D1):c.856+10G>A rs10404294 0.02460
NM_001261826.3(AP3D1):c.2602-55C>T rs146083008 0.02132
NM_001261826.3(AP3D1):c.1713+260G>C rs149025697 0.01949
NM_001261826.3(AP3D1):c.2787+20A>G rs28525198 0.01044
NM_001261826.3(AP3D1):c.2109C>T (p.Pro703=) rs34286317 0.00819
NM_001261826.3(AP3D1):c.2424-18C>T rs117387599 0.00777
NM_001261826.3(AP3D1):c.1989A>G (p.Glu663=) rs73512353 0.00652
NM_001261826.3(AP3D1):c.2787+18C>T rs149431838 0.00467
NM_001261826.3(AP3D1):c.857-3C>T rs202003533 0.00437
NM_001261826.3(AP3D1):c.2938-8A>G rs143612937 0.00409
NM_001261826.3(AP3D1):c.3177C>T (p.Gly1059=) rs115348240 0.00365
NM_001261826.3(AP3D1):c.463-4G>A rs192634153 0.00324
NM_001261826.3(AP3D1):c.2184G>A (p.Glu728=) rs2240654 0.00310
NM_001261826.3(AP3D1):c.1101+7G>A rs201550850 0.00235
NM_001261826.3(AP3D1):c.2901G>A (p.Pro967=) rs150982298 0.00185
NM_001261826.3(AP3D1):c.2150-5C>T rs116599347 0.00165
NM_001261826.3(AP3D1):c.274-16A>C rs201904197 0.00159
NM_001261826.3(AP3D1):c.655C>T (p.Leu219=) rs199695826 0.00098
NM_001261826.3(AP3D1):c.1902C>T (p.Ser634=) rs201354946 0.00076
NM_001261826.3(AP3D1):c.534C>T (p.Pro178=) rs187451666 0.00076
NM_001261826.3(AP3D1):c.2002-3C>T rs200828360 0.00073
NM_001261826.3(AP3D1):c.96+11C>T rs138883145 0.00033
NM_001261826.3(AP3D1):c.193-13C>T rs183486048 0.00019
NM_001261826.3(AP3D1):c.1314C>T (p.Ala438=) rs373957589 0.00013
NM_001261826.3(AP3D1):c.2292C>T (p.Ser764=) rs376361242 0.00012
NM_001261826.3(AP3D1):c.1116C>T (p.Asn372=) rs530983058 0.00002
NM_001261826.3(AP3D1):c.592+15G>A rs562076461 0.00001
NM_001261826.3(AP3D1):c.97-6T>C rs540530053 0.00001
NM_001261826.3(AP3D1):c.1101+185G>A rs11667501
NM_001261826.3(AP3D1):c.1482-182C>T rs10408693
NM_001261826.3(AP3D1):c.1859+146C>T rs75223679
NM_001261826.3(AP3D1):c.1860-15T>C rs78648742
NM_001261826.3(AP3D1):c.193-235A>G rs34615083
NM_001261826.3(AP3D1):c.2074-20_2074-17dup rs775499881
NM_001261826.3(AP3D1):c.2349+182A>G rs2240653
NM_001261826.3(AP3D1):c.2424-164G>T rs11673600
NM_001261826.3(AP3D1):c.2550A>G (p.Lys850=) rs55698722
NM_001261826.3(AP3D1):c.2601+215C>T rs78080533
NM_001261826.3(AP3D1):c.2602-288G>C rs78459957
NM_001261826.3(AP3D1):c.273+16G>A rs79434492
NM_001261826.3(AP3D1):c.273+231T>C rs2018890
NM_001261826.3(AP3D1):c.273+31del rs35577553
NM_001261826.3(AP3D1):c.274-236dup rs113229005
NM_001261826.3(AP3D1):c.2787+15C>A rs199564568
NM_001261826.3(AP3D1):c.2937+29A>G rs2074959
NM_001261826.3(AP3D1):c.2986-143C>G rs77605654
NM_001261826.3(AP3D1):c.3350+60C>G rs79162849
NM_001261826.3(AP3D1):c.3400A>G (p.Ile1134Val) rs25673
NM_001261826.3(AP3D1):c.354+18G>A rs117019553
NM_001261826.3(AP3D1):c.3553-243G>C rs111856206
NM_001261826.3(AP3D1):c.593-18G>C rs758288
NM_001261826.3(AP3D1):c.593-3del
NM_001261826.3(AP3D1):c.733-64_733-15del rs552445823
NM_001261826.3(AP3D1):c.807-290del rs144972770
NM_001261826.3(AP3D1):c.906+9C>T rs565876786
NM_001261826.3(AP3D1):c.907-12del rs751143148
NM_001261826.3(AP3D1):c.956-216G>C rs56100605

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