ClinVar Miner

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

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_006767.4(LZTR1):c.401-1G>A
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767

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