ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome and Noonan-related syndrome by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_002745.5(MAPK1):c.946T>C (p.Tyr316His)
NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu) rs1592852902
NM_004333.6(BRAF):c.823G>A (p.Glu275Lys) rs2129044284
NM_004985.5(KRAS):c.440A>T (p.Lys147Met)
NM_005633.4(SOS1):c.305C>T (p.Pro102Leu)
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268

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