ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1323dup (p.Gln442fs) rs281865085
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.163_165ATC[1] (p.Ile56del) rs281865073
NM_000195.5(HPS1):c.1691del (p.Lys564fs) rs281865087
NM_000195.5(HPS1):c.1744-2A>C rs281865088
NM_000195.5(HPS1):c.1749G>A (p.Trp583Ter) rs281865089
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter)
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro) rs281865090
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.288del (p.Asp97fs) rs281865074
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) rs121908386
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.418del (p.Ala140fs) rs281865078
NM_000195.5(HPS1):c.532dup (p.Gln178fs) rs281865079
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) rs281865080
NM_000195.5(HPS1):c.932del (p.Ser311fs) rs281865091
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
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.974_975insC (p.Met325fs) rs281865092

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