ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 10 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001261826.3(AP3D1):c.3233A>G (p.Lys1078Arg) rs201804540 0.00025
NM_001261826.3(AP3D1):c.2601+6G>T rs1265838305 0.00003

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