List of variants in gene combination CP, HPS3 reported as likely benign for Hermansky-Pudlak syndrome 3

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000096.4(CP):c.*879A>C	rs144029944	0.00863
NM_032383.5(HPS3):c.*170C>T	rs182666670	0.00795
NM_000096.4(CP):c.*259C>T	rs192321084	0.00414
NM_032383.5(HPS3):c.2469A>G (p.Thr823=)	rs370137287	0.00010
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys)	rs543058717	0.00002
NM_032383.5(HPS3):c.2967T>C (p.Phe989=)	rs1170514296	0.00001

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