ClinVar Miner

List of variants studied for Noonan syndrome and Noonan-related syndrome by Center for Molecular Medicine, Children’s Hospital of Fudan University

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.61G>A (p.Val21Met) rs752484962 0.00001
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_006767.4(LZTR1):c.722T>C (p.Phe241Ser) rs1423756155

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