ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 3 by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.677A>G (p.His226Arg) rs188661079 0.00005
NM_032383.5(HPS3):c.3011C>T (p.Thr1004Ile)
NM_032383.5(HPS3):c.827C>G (p.Ser276Cys)

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