ClinVar Miner

List of variants reported as pathogenic for optic pathway glioma by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (4):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	rs137854550	0.00002
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)	rs768638173	0.00001
NM_001042492.3(NF1):c.1721+3A>G	rs1057518904

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