List of variants studied for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome by Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr)	rs782457908	0.00001
NM_007373.4(SHOC2):c.157G>A (p.Gly53Arg)	rs2134121169
NM_007373.4(SHOC2):c.517A>G (p.Met173Val)	rs1057518206
NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg)	rs864309599
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)	rs2104102138
NM_181784.3(SPRED2):c.299T>C (p.Leu100Pro)	rs2104216988

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