ClinVar Miner

List of variants studied for Noonan syndrome by Provincial Medical Genetics Program of British Columbia, University of British Columbia

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149

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