ClinVar Miner

List of variants in gene AP3B1 reported by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_003664.5(AP3B1):c.*107T>A rs11552314 0.29901
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_003664.5(AP3B1):c.1969-10G>A rs77009095 0.05363
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146 0.04676
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=) rs76433453 0.02452
NM_001271769.2(AP3B1):c.*588A>G rs114954951 0.02413
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_003664.5(AP3B1):c.2810-4C>T rs115340604 0.01015
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_003664.5(AP3B1):c.*379A>G rs115124715 0.00669
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met) rs146503597 0.00517
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033 0.00400
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_003664.5(AP3B1):c.*44G>A rs182487478 0.00174
NM_003664.5(AP3B1):c.942G>A (p.Ala314=) rs146871001 0.00093
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_003664.5(AP3B1):c.3131+5G>T rs191616060 0.00053
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=) rs112652327 0.00047
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589 0.00046
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=) rs34089426 0.00041
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178 0.00032
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=) rs115747826 0.00027
NM_003664.5(AP3B1):c.1168-9C>T rs367648410 0.00024
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=) rs142938290 0.00024
NM_003664.5(AP3B1):c.*482C>T rs538570213 0.00017
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037 0.00014
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572 0.00013
NM_003664.5(AP3B1):c.2762A>G (p.Glu921Gly) rs753810749 0.00011
NM_003664.5(AP3B1):c.*101T>C rs766029582 0.00010
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 0.00010
NM_003664.5(AP3B1):c.537-9A>G rs372285421 0.00009
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu) rs138751237 0.00007
NM_003664.5(AP3B1):c.*507G>A rs865863660 0.00006
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=) rs201238945 0.00006
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) rs376978572 0.00005
NM_003664.5(AP3B1):c.196A>G (p.Ile66Val) rs779404585 0.00004
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg) rs764312417 0.00004
NM_003664.5(AP3B1):c.388C>T (p.Leu130=) rs138774723 0.00004
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala) rs148160411 0.00003
NM_003664.5(AP3B1):c.519A>G (p.Ala173=) rs747459337 0.00003
NM_003664.5(AP3B1):c.*141T>C rs753283084 0.00001
NM_003664.5(AP3B1):c.*447C>T rs886060768 0.00001
NM_003664.5(AP3B1):c.1364-11A>G rs759174401 0.00001
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val) rs191850940 0.00001
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=) rs774196917 0.00001
NM_003664.5(AP3B1):c.537-7T>A rs773657171 0.00001
NM_003664.5(AP3B1):c.557A>C (p.Glu186Ala) rs778281326 0.00001
NM_003664.4(AP3B1):c.-126C>G rs760008097
NM_003664.5(AP3B1):c.*191C>G rs6864605
NM_003664.5(AP3B1):c.*380G>A rs911081557
NM_003664.5(AP3B1):c.*380G>C rs911081557
NM_003664.5(AP3B1):c.*552TAAA[1] rs886060767
NM_003664.5(AP3B1):c.*69dup rs886060769
NM_003664.5(AP3B1):c.-115G>A rs886060776
NM_003664.5(AP3B1):c.-83G>C rs774869942
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile) rs757985695
NM_003664.5(AP3B1):c.1190C>T (p.Ala397Val) rs1743584840
NM_003664.5(AP3B1):c.1281T>C (p.Thr427=) rs954170484
NM_003664.5(AP3B1):c.1392T>G (p.Val464=) rs886060774
NM_003664.5(AP3B1):c.1836A>T (p.Lys612Asn) rs1752586022
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala) rs749489841
NM_003664.5(AP3B1):c.2012C>T (p.Ser671Phe) rs886060773
NM_003664.5(AP3B1):c.2093G>A (p.Ser698Asn) rs886060772
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn) rs532221135
NM_003664.5(AP3B1):c.2405A>G (p.Glu802Gly) rs886060771
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro) rs1002296977
NM_003664.5(AP3B1):c.2906A>G (p.Asp969Gly) rs886060770
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys) rs1397315776
NM_003664.5(AP3B1):c.720G>A (p.Gly240=) rs886060775
NM_003664.5(AP3B1):c.786+6T>A rs1332793203
NM_003664.5(AP3B1):c.905G>A (p.Arg302Lys) rs1744368521
NM_003664.5(AP3B1):c.976A>G (p.Ile326Val) rs758789954

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