ClinVar Miner

List of variants in gene AP3B1 reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 16
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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.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.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.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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