ClinVar Miner

List of variants studied for Noonan syndrome by Genetics Molecular Biology Lab, Hospital Juan P Garrahan

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_002880.3(RAF1):c.1467G>C (p.Leu489Phe) rs1553610155
NM_006767.4(LZTR1):c.2245T>C (p.Tyr749His)
NM_006767.4(LZTR1):c.360C>A (p.His120Gln)
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686

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