ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome and Noonan-related syndrome by Service de Génétique Moléculaire,Hôpital Robert Debré

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) rs180177036
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_004333.6(BRAF):c.1495A>C (p.Lys499Gln)
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_005343.4(HRAS):c.188_230dup (p.Phe78fs)
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) rs730880461
NM_030662.3(MAP2K2):c.26T>C (p.Leu9Pro) rs758307267
NM_030662.3(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030662.4(MAP2K2):c.1109A>G (p.Lys370Arg)
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn) rs886041310
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980

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