ClinVar Miner

List of variants reported as likely benign 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: 12
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NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr)
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp)
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala)
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys)
NM_004333.6(BRAF):c.101C>T (p.Ala34Val)
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004333.6(BRAF):c.89G>A (p.Gly30Asp)
NM_030662.3(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277
NM_030662.3(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.4(MAP2K2):c.149A>G (p.Gln50Arg)
NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn)

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