ClinVar Miner

List of variants studied for secondary avascular necrosis by Revvity Omics, Revvity

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
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)	rs121909551	0.00092
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)	rs121909552	0.00018
NM_000488.4(SERPINC1):c.269T>G (p.Phe90Cys)

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