ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000195.4(HPS1):c.1472_1487dup16 (p.His497Glnfs) rs281865163
NM_000195.4(HPS1):c.972dupC (p.Met325Hisfs) rs281865082
NM_022081.5(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_024747.5(HPS6):c.238dup (p.Asp80Glyfs) rs281865108

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