ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome and Noonan-related syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001374258.1(BRAF):c.1863T>A (p.Asn621Lys) rs397516895
NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686

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