ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_002755.3(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_004333.4(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.5(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466

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