ClinVar Miner

List of variants reported as likely benign for Noonan syndrome 5

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.1755A>G (p.Val585=) rs3730296 0.02125
NM_002880.4(RAF1):c.1941C>T (p.Val647=) rs3730297 0.00729
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_002880.4(RAF1):c.*495C>T rs12808 0.00354
NM_002880.4(RAF1):c.*160C>T rs5746246 0.00295
NM_002880.4(RAF1):c.*110T>C rs550188508 0.00112
NM_002880.4(RAF1):c.321-14T>A rs3730270 0.00032
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_002880.4(RAF1):c.*556G>A rs187286358 0.00014
NM_002880.4(RAF1):c.*404G>A rs150460686 0.00013
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_002880.4(RAF1):c.834+598G>A rs375404697 0.00009
NM_002880.4(RAF1):c.435G>A (p.Thr145=) rs371565419 0.00004
NM_002880.4(RAF1):c.1113T>C (p.Asp371=) rs146668293 0.00002
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00001
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.4(RAF1):c.*606A>G rs556460176
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002880.4(RAF1):c.-267G>A rs116247741
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244

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