ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg) rs1591045080
NM_000195.5(HPS1):c.1744-2A>C rs281865088
NM_000195.5(HPS1):c.1857+2T>C rs374689398
NM_000195.5(HPS1):c.1932del (p.Tyr645fs)
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter) rs1591002808
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly) rs1591093208
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082

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