List of variants in gene AP3B1 reported as likely benign for Hermansky-Pudlak syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
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.1116G>C (p.Leu372=)	rs76433453	0.02452
NM_001271769.2(AP3B1):c.*588A>G	rs114954951	0.02413
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del)	rs199702315
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del)	rs111935323

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