ClinVar Miner

List of variants in gene PTPN11, RPL6 studied for Noonan syndrome

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002834.3(PTPN11):c.-287G>C rs377496292 0.00009
NM_002834.3(PTPN11):c.-291G>A rs997562896
NM_002834.3(PTPN11):c.-317C>G rs373537430

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