ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome and Noonan-related syndrome by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006939.4(SOS2):c.947C>G (p.Pro316Arg) rs1885702697 0.00001
NM_002834.5(PTPN11):c.612A>T (p.Glu204Asp)
NM_005633.4(SOS1):c.3068C>G (p.Pro1023Arg) rs1572806229

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