ClinVar Miner

List of variants in gene AP3B1 reported as uncertain significance for Hermansky-Pudlak syndrome

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Total variants: 8
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HGVS dbSNP
NM_001271769.2(AP3B1):c.*552_*555TAAA[1] rs886060767
NM_003664.4(AP3B1):c.*69dup rs886060769
NM_003664.4(AP3B1):c.2995G>A (p.Val999Met) rs146503597
NM_003664.4(AP3B1):c.388C>T (p.Leu130=) rs138774723
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052

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