ClinVar Miner

List of variants reported as pathogenic for Noonan syndrome and Noonan-related syndrome by Mendelics

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_002880.3(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752

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