ClinVar Miner

List of variants reported as pathogenic for Noonan syndrome and Noonan-related syndrome by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048

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