ClinVar Miner

List of variants reported as pathogenic for LEOPARD syndrome 1 by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

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_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)	rs121918470
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	rs121918456

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