List of variants studied for Noonan syndrome 1 by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 6

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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.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	rs397507545
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)	rs397507510
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_005199.5(CHRNG):c.350+4A>G

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