ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome with multiple lentigines

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_001354689.3(RAF1):c.1142G>C (p.Gly381Ala) rs397516813
NM_001354689.3(RAF1):c.773C>G (p.Thr258Arg) rs1575573330
NM_001374258.1(BRAF):c.1863T>A (p.Asn621Lys) rs397516895
NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_002834.4(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042

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