ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001354689.3(RAF1):c.1815A>G (p.Val605=) rs3730296
NM_001354689.3(RAF1):c.321-21dup rs202103447
NM_001354689.3(RAF1):c.462C>G (p.Ile154Met) rs367732360
NM_001354689.3(RAF1):c.983C>T (p.Pro328Leu) rs5746220
NM_001354689.3(RAF1):c.994G>A (p.Val332Met) rs555034652
NM_001374258.1(BRAF):c.1347A>G (p.Ser449=) rs145035762
NM_001374258.1(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_001374258.1(BRAF):c.89G>A (p.Gly30Asp) rs1273585752
NM_002834.4(PTPN11):c.*1006del rs146940557
NM_002834.4(PTPN11):c.*1157_*1159ATG[14] rs80269561
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002880.3(RAF1):c.-415-1C>G rs61730434
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454

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