ClinVar Miner

List of variants studied for secondary avascular necrosis by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn)	rs1571966221	0.00001
NM_000488.4(SERPINC1):c.624+1G>A	rs1572090079

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