ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome with pulmonary fibrosis by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)	rs149830675	0.00306
NM_022081.6(HPS4):c.1883G>A (p.Arg628His)	rs78892693	0.00257

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