List of variants reported as pathogenic for Noonan syndrome and Noonan-related syndrome by Mendelics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.1785+1G>A	rs145594158	0.00001
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)	rs397516827
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)	rs794729219
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	rs180177035
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)	rs1595763925
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)	rs750777752

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