ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome 3

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Total variants: 10
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HGVS dbSNP
NM_002834.4(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.4(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.4(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.4(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002880.3(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_004985.5(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.183G>T (p.Gln61His) rs121913496
NM_005633.3(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_033360.4(KRAS):c.458A>T (p.Glu153Val)

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