ClinVar Miner

List of variants studied for Noonan syndrome by Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital

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Total variants: 7
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HGVS dbSNP
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup) rs1591495776
NM_012250.6(RRAS2):c.68G>T (p.Gly23Val) rs1591495779
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_181784.3(SPRED2):c.1142_1143del (p.Leu381fs)
NM_181784.3(SPRED2):c.299T>C (p.Leu100Pro)

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