List of variants in gene HPS1 reported as pathogenic for Hermansky-Pudlak syndrome

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter)	rs538274657	0.00003
NM_000195.5(HPS1):c.1857+2T>C	rs374689398	0.00002
NM_000195.5(HPS1):c.355del (p.His119fs)	rs281865075	0.00002
NM_000195.5(HPS1):c.398+2T>C	rs1486224265	0.00002
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro)	rs281865080	0.00002
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter)	rs1185127836	0.00001
NM_000195.5(HPS1):c.1744-2A>C	rs281865088	0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)	rs886077189	0.00001
NM_000195.5(HPS1):c.1858-1G>A	rs758797992	0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter)	rs281865076	0.00001
NM_000195.5(HPS1):c.988-1G>T	rs764927038	0.00001
NM_000195.5(HPS1):c.1090dup (p.Leu364fs)	rs2136156603
NM_000195.5(HPS1):c.1189del (p.Gln397fs)	rs281865084
NM_000195.5(HPS1):c.1375del (p.Ser459fs)	rs281865086
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter)	rs786205464
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)	rs281865163
NM_000195.5(HPS1):c.1507C>T (p.Gln503Ter)	rs748888649
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter)	rs769446880
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter)	rs1591031929
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter)	rs1591120765
NM_000195.5(HPS1):c.1932del (p.Tyr645fs)	rs1239621485
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter)	rs121908385
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)	rs773323079
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter)	rs121908386
NM_000195.5(HPS1):c.398+5G>A	rs281865077
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs)	rs1846922474
NM_000195.5(HPS1):c.533del (p.Gln178fs)
NM_000195.5(HPS1):c.610G>T (p.Glu204Ter)	rs747607498
NM_000195.5(HPS1):c.780dup (p.Arg261fs)	rs2136197089
NM_000195.5(HPS1):c.928C>T (p.Gln310Ter)	rs748939090
NM_000195.5(HPS1):c.962del (p.Gly321fs)	rs281865081
NM_000195.5(HPS1):c.962dup (p.Thr322fs)	rs281865081
NM_000195.5(HPS1):c.972del (p.Met325fs)	rs281865082

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