ClinVar Miner

List of variants studied for alpha granule disease by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (4):

Gray platelet syndrome
Paris-Trousseau thrombocytopenia
Platelet-type bleeding disorder 17
Quebec platelet disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001377304.1(GFI1B):c.550C>T (p.Arg184Cys)	rs771408008	0.00006
NM_015175.3(NBEAL2):c.7284del (p.Asn2428fs)	rs2107453711

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