ClinVar Miner

List of variants reported as benign for Noonan syndrome and Noonan-related syndrome by Baylor Genetics

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.1830A>G (p.Gln610=) rs141791080
NM_002880.3(RAF1):c.1941C>T (p.Val647=) rs3730297
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.1964C>T (p.Pro655Leu) rs56219475
NM_030662.3(MAP2K2):c.405G>C (p.Gly135=) rs10424722
NM_030662.3(MAP2K2):c.453C>T (p.Asp151=) rs17851657
NM_030662.3(MAP2K2):c.660C>A (p.Ile220=) rs10250
NM_033360.4(KRAS):c.483= (p.Arg161=) rs4362222

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