ClinVar Miner

List of variants reported as likely benign for Noonan syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_002834.4(PTPN11):c.1620C>T (p.His540=) rs587781132
NM_002834.4(PTPN11):c.933+25T>C rs727505386
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_005633.3(SOS1):c.2511-13_2511-9del rs727503436
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.396A>T (p.Ala132=) rs727505385

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