ClinVar Miner

List of variants in gene AP3B1 reported as benign for not specified

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Gene type:
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Total variants: 33
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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.536+104C>T rs7714159 0.33493
NM_003664.5(AP3B1):c.280-28T>C rs4499809 0.33465
NM_003664.5(AP3B1):c.604-97C>T rs9293731 0.30127
NM_003664.5(AP3B1):c.*107T>A rs11552314 0.29901
NM_003664.5(AP3B1):c.204+81C>T rs10065892 0.27154
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_003664.5(AP3B1):c.1837+109G>A rs1422067 0.20232
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_003664.5(AP3B1):c.1168-70T>C rs6873309 0.10580
NM_003664.5(AP3B1):c.1838-78C>G rs16875172 0.08166
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.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.2324T>A (p.Ile775Lys) rs62001050 0.00745
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.2585C>T (p.Thr862Ile) rs146624866 0.00508
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.1040+9T>A rs201876461 0.00237
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_003664.5(AP3B1):c.375+11G>A rs190638302 0.00114
NM_003664.5(AP3B1):c.3132-22G>A rs201198522 0.00098
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 0.00010
NM_003664.5(AP3B1):c.2470+10G>C rs556568288 0.00001
NM_003664.5(AP3B1):c.1650+12del rs563512609
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del) rs111935323

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