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

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Gene type:		Distinguish antisense genes from sense genes
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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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