ClinVar Miner

List of variants in gene AP3B1 reported as benign for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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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_003664.5(AP3B1):c.1364-18A>G rs112329411 0.01617
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.1095+17C>T rs58284777 0.01316
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.1838-19T>G rs140840619 0.00367
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_003664.5(AP3B1):c.1040+9T>A rs201876461 0.00237
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
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.*44G>A rs182487478 0.00174
NM_003664.5(AP3B1):c.375+11G>A rs190638302 0.00114
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=) rs34089426 0.00041
NM_003664.5(AP3B1):c.1168-9C>T rs367648410 0.00024
NM_003664.5(AP3B1):c.402C>T (p.Ser134=) rs144761256 0.00018
NM_003664.5(AP3B1):c.537-9A>G rs372285421 0.00009
NM_003664.5(AP3B1):c.2993-15C>A rs202232687 0.00008
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_003664.5(AP3B1):c.1186T>C (p.Leu396=) rs574476271 0.00002
NM_003664.5(AP3B1):c.129-18del
NM_003664.5(AP3B1):c.129-18dup rs201281724
NM_003664.5(AP3B1):c.1411A>C (p.Met471Leu) rs556638927
NM_003664.5(AP3B1):c.1650+12del rs563512609
NM_003664.5(AP3B1):c.2112C>T (p.Gly704=) rs35976098
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.280-6del rs5868908
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323

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