List of variants studied for Noonan syndrome by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys)	rs587778634	0.00002
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs)	rs1460026299	0.00001
NM_002524.5(NRAS):c.457G>A (p.Glu153Lys)
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu)	rs180177042
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)	rs397517154
NM_005633.4(SOS1):c.3928T>A (p.Tyr1310Asn)
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs)	rs587777179
NM_006767.4(LZTR1):c.309C>A (p.Cys103Ter)

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