List of variants reported as uncertain significance for RASopathy by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)	rs148176616	0.00048
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser)	rs561495878	0.00009
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln)	rs140111079	0.00006
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)	rs371314838	0.00004
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)	rs536611911	0.00003
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)	rs139401491	0.00002
NM_005633.4(SOS1):c.3290G>C (p.Ser1097Thr)	rs727505379	0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr)	rs757240576	0.00001
NM_002834.5(PTPN11):c.1277A>C (p.His426Pro)	rs727505389
NM_005633.4(SOS1):c.3433G>A (p.Asp1145Asn)	rs727505383
NM_006939.4(SOS2):c.775G>A (p.Gly259Ser)
NM_030662.4(MAP2K2):c.650G>C (p.Gly217Ala)
NM_030662.4(MAP2K2):c.712C>T (p.Arg238Trp)
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)

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