ClinVar Miner

List of variants in gene BLOC1S3 studied for Hermansky-Pudlak syndrome

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Total variants: 3
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NM_212550.4(BLOC1S3):c.*155_*156insAA rs570559399
NM_212550.4(BLOC1S3):c.*1905T>C rs78979751
NM_212550.4(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup) rs1599746194

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