ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome 1 by Centre for Human Genetics

Included ClinVar conditions (11):

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_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_006767.4(LZTR1):c.2238del (p.Tyr747fs)
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	rs869320686

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