ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000195.3(HPS1):c.1189delC (p.Gln397Serfs) rs281865084
NM_022081.5(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_024747.5(HPS6):c.1693T>G (p.Phe565Val) rs1554903728
NM_024747.5(HPS6):c.238dup (p.Asp80Glyfs) rs281865108
NM_032383.4(HPS3):c.2736_2739del (p.Glu913Aspfs) rs1277509410
NM_032383.4(HPS3):c.89_114del (p.Arg30Leufs) rs1553750083

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