ClinVar Miner

List of variants studied for Noonan syndrome by MVZ Medizinische Genetik Mainz

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002524.5(NRAS):c.203G>T (p.Arg68Ile)
NM_005633.4(SOS1):c.157T>G (p.Leu53Val)
NM_006939.4(SOS2):c.1331T>A (p.Met444Lys)

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