ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002524.5(NRAS):c.457G>A (p.Glu153Lys) rs866005906
NM_005633.4(SOS1):c.3928T>A (p.Tyr1310Asn) rs2528869249

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