List of variants in gene combination LOC130055588, SOS2 reported as uncertain significance for Noonan syndrome and Noonan-related syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_006939.4(SOS2):c.13C>G (p.Pro5Ala)	rs976486198	0.00004
NM_006939.4(SOS2):c.33del (p.Phe11fs)	rs2503347068	0.00001
NM_006939.4(SOS2):c.69G>C (p.Leu23Phe)	rs1003888969	0.00001
NM_006939.4(SOS2):c.74C>T (p.Ser25Leu)	rs1887534256	0.00001
NM_006939.4(SOS2):c.19C>A (p.Pro7Thr)	rs1887536522
NM_006939.4(SOS2):c.19C>T (p.Pro7Ser)
NM_006939.4(SOS2):c.1_20dup (p.Tyr8fs)	rs2503347202
NM_006939.4(SOS2):c.2T>C (p.Met1Thr)	rs2503347343
NM_006939.4(SOS2):c.37GAG[1] (p.Glu14del)
NM_006939.4(SOS2):c.42G>T (p.Glu14Asp)	rs2503346950
NM_006939.4(SOS2):c.49C>T (p.Pro17Ser)	rs750929787
NM_006939.4(SOS2):c.83G>A (p.Arg28Gln)	rs1887533896
NM_006939.4(SOS2):c.87+1G>T	rs1481044174

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