ClinVar Miner

List of variants in gene RAF1 reported as likely benign for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_002880.3(RAF1):c.*160C>T rs5746246
NM_002880.3(RAF1):c.*266C>T rs1051208
NM_002880.3(RAF1):c.*348T>C rs5746247
NM_002880.3(RAF1):c.*83C>T rs2229757
NM_002880.3(RAF1):c.-281C>G rs61761285
NM_002880.3(RAF1):c.-415-1C>G rs61730434
NM_002880.3(RAF1):c.124G>A (p.Ala42Thr) rs200856000
NM_002880.3(RAF1):c.125C>T (p.Ala42Val) rs11549992
NM_002880.3(RAF1):c.1537-11_1537-3dup rs730880996
NM_002880.3(RAF1):c.1669-13T>C rs147475396
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.1914G>A (p.Thr638=) rs144876026
NM_002880.3(RAF1):c.30G>A (p.Thr10=) rs140806518
NM_002880.3(RAF1):c.321-14T>A rs3730270
NM_002880.3(RAF1):c.321-21dup rs202103447
NM_002880.3(RAF1):c.507C>G (p.Gly169=) rs1309333776
NM_002880.3(RAF1):c.513A>G (p.Lys171=) rs561163045
NM_002880.3(RAF1):c.570C>T (p.Ile190=) rs780912024
NM_002880.3(RAF1):c.581+4A>G rs201776526
NM_002880.3(RAF1):c.606T>G (p.Gly202=) rs754197477
NM_002880.3(RAF1):c.66T>G (p.Phe22Leu) rs397516824
NM_002880.3(RAF1):c.835-9C>G rs200112870
NM_002880.3(RAF1):c.855C>T (p.Ser285=) rs763657486
NM_002880.3(RAF1):c.907A>G (p.Thr303Ala) rs775898894
NM_002880.3(RAF1):c.909A>C (p.Thr303=) rs5746219
NM_002880.3(RAF1):c.923C>T (p.Pro308Leu) rs5746220
NM_002880.3(RAF1):c.933C>T (p.Pro311=) rs1553613022

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