ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome with pulmonary fibrosis by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_022081.5(HPS4):c.710C>T (p.Ala237Val) rs77597168

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