ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 3 by Counsyl

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_032383.5(HPS3):c.89_114del (p.Arg30fs) rs1553750083

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