ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108

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