List of variants in gene HPS3 reported as pathogenic for Hermansky-Pudlak syndrome without pulmonary fibrosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.1163+1G>A	rs201227603	0.00005
NM_032383.5(HPS3):c.1588C>T (p.Arg530Ter)	rs755841847	0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)	rs200079039	0.00003
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)	rs121908316	0.00002
NM_032383.5(HPS3):c.1291del (p.Leu431fs)	rs2108152647	0.00001
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter)	rs755083879	0.00001
NM_032383.5(HPS3):c.728_729insA (p.Ser244fs)	rs760577035	0.00001
NC_000003.12:g.149126714_149130632del
NM_032383.5(HPS3):c.1555_1595dup (p.Ala532_Leu533insPheThrPheSerValArgLeuIleCysTer)	rs756611897
NM_032383.5(HPS3):c.1561del (p.Leu521fs)	rs2108158577
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter)	rs753185316
NM_032383.5(HPS3):c.1631del (p.Lys544fs)	rs1180676335
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.248dup (p.Asn83fs)	rs1336214631
NM_032383.5(HPS3):c.319C>T (p.Arg107Ter)	rs1722344275
NM_032383.5(HPS3):c.7C>T (p.Gln3Ter)	rs2473044613
NM_032383.5(HPS3):c.851_852del (p.Arg284fs)	rs750685598
NM_032383.5(HPS3):c.868C>T (p.Gln290Ter)	rs766446900
NM_032383.5(HPS3):c.882T>G (p.Tyr294Ter)	rs752087954
NM_032383.5(HPS3):c.995_996dup (p.Leu333fs)	rs763305108

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