ClinVar Miner

List of variants reported as pathogenic for Hermansky-Pudlak syndrome 3

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_032383.5(HPS3):c.2589+1G>T rs281865095 0.00002
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00001
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) rs755083879 0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_032383.5(HPS3):c.2482-2A>G rs397507168 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00001
NM_032383.5(HPS3):c.728_729insA (p.Ser244fs) rs760577035 0.00001
NM_032383.5(HPS3):c.0_217+692del
NM_032383.5(HPS3):c.1291del (p.Leu431fs)
NM_032383.5(HPS3):c.1561del (p.Leu521fs) rs2108158577
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) rs753185316
NM_032383.5(HPS3):c.1691+2T>G rs281865093
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter) rs1723609962
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) rs745457191
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) rs1576695913
NM_032383.5(HPS3):c.248dup (p.Asn83fs)
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.7C>T (p.Gln3Ter)
NM_032383.5(HPS3):c.851_852del (p.Arg284fs) rs750685598
NM_032383.5(HPS3):c.868C>T (p.Gln290Ter)
NM_032383.5(HPS3):c.995_996dup (p.Leu333fs) rs763305108

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