ClinVar Miner

List of variants studied for Noonan syndrome and Noonan-related syndrome by Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu) rs180177042

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