ClinVar Miner

List of variants reported as benign for Noonan syndrome and Noonan-related syndrome by Invitae

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_002524.5(NRAS):c.159G>A (p.Leu53=) rs114668710
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_005633.3(SOS1):c.3552T>G (p.Pro1184=) rs200485215
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088
NM_007373.3(SHOC2):c.1540+8C>T rs771283010

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