ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome with pulmonary fibrosis by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_022081.6(HPS4):c.2041G>A (p.Gly681Ser) rs149568178 0.00002
NM_000195.5(HPS1):c.2086C>T (p.Arg696Cys) rs118116760 0.00001
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.610G>T (p.Glu204Ter) rs747607498
NM_000195.5(HPS1):c.689G>A (p.Arg230His) rs377752969
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_022081.6(HPS4):c.2054del (p.Pro685fs) rs2146241760
NM_022081.6(HPS4):c.272T>C (p.Leu91Pro) rs2146925564

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