ClinVar Miner

List of variants in gene AP3B1 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
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.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.822C>T (p.Tyr274=) rs112652327 0.00047
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) rs376978572 0.00005
NM_003664.5(AP3B1):c.2700C>T (p.Val900=) rs756834284 0.00002
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527

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