List of variants reported as uncertain significance for Hermansky-Pudlak syndrome 3 by Revvity Omics, Revvity

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.592G>A (p.Val198Ile)	rs144990171	0.00039
NM_032383.5(HPS3):c.1330C>A (p.His444Asn)	rs138303522	0.00026
NM_032383.5(HPS3):c.338T>G (p.Val113Gly)	rs763529688	0.00008
NM_032383.5(HPS3):c.2747C>G (p.Pro916Arg)

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