List of variants studied for Noonan syndrome by Centogene AG - the Rare Disease Company

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)	rs397507511
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)	rs397507519
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_006767.4(LZTR1):c.320+1G>C	rs943939913
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	rs869025194

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