ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_002834.4(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg)
NM_005633.3(SOS1):c.3392G>A (p.Arg1131Lys)
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His) rs1466413438

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