ClinVar Miner

List of variants studied for Noonan syndrome and Noonan-related syndrome by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.424-18G>A rs7179118 0.23890
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183

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