ClinVar Miner

List of variants in gene HRG, LOC126806897 studied for secondary avascular necrosis

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
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000412.5(HRG):c.271C>T (p.Pro91Ser)	rs761776963	0.00001
NM_000412.5(HRG):c.227C>T (p.Ser76Leu)
NM_000412.5(HRG):c.308G>A (p.Gly103Glu)	rs121918122
NM_000412.5(HRG):c.372del (p.Phe124fs)

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