ClinVar Miner

List of variants reported as benign for secondary avascular necrosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):

Gaucher disease type I
Gaucher disease type I; Gaucher disease type II; Gaucher disease type III
Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease perinatal lethal; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Hereditary antithrombin deficiency
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Lewy body dementia; Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease perinatal lethal; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Parkinson disease, late-onset

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000488.4(SERPINC1):c.1011A>G (p.Gln337=)	rs5878	0.48194
NM_000488.4(SERPINC1):c.981A>G (p.Val327=)	rs5877	0.48114
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)	rs2227624	0.00171
NM_000488.4(SERPINC1):c.914C>A (p.Pro305His)	rs549991084	0.00001

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