ClinVar Miner

List of variants in gene HPS3 studied for Hermansky-Pudlak syndrome

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Total variants: 12
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HGVS dbSNP
NM_032383.4(HPS3):c.-108C>T rs886058074
NM_032383.5(HPS3):c.1163+1G>A rs201227603
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter) rs1553750097
NM_032383.5(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys) rs775762509
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile) rs780183200
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) rs753185316
NM_032383.5(HPS3):c.716T>G (p.Ile239Ser) rs886058075
NM_032383.5(HPS3):c.884+11_884+12insT rs886058076
NM_032383.5(HPS3):c.884+21_884+25dup rs10693502
NM_032383.5(HPS3):c.884+22_884+25dup rs10693502
NM_032383.5(HPS3):c.884+24_884+25dup rs10693502
NM_032383.5(HPS3):c.884+25del rs10693502

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