ClinVar Miner

List of variants studied for secondary avascular necrosis by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)	rs757041827	0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)	rs121908311	0.00001
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)	rs369068553

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