ClinVar Miner

List of variants reported as pathogenic for secondary avascular necrosis by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)	rs2227624	0.00171
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.391C>T (p.Leu131Phe)	rs121909567	0.00001
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr)	rs1449772752
NM_000488.4(SERPINC1):c.266_318del (p.Arg89fs)

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