ClinVar Miner

List of variants studied for Noonan syndrome by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195

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