ClinVar Miner

List of variants in gene RAF1 reported as likely benign by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.581+4A>G rs201776526 0.00087
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_002880.4(RAF1):c.124G>A (p.Ala42Thr) rs200856000 0.00021
NM_002880.4(RAF1):c.125C>T (p.Ala42Val) rs11549992 0.00021
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_002880.4(RAF1):c.66T>G (p.Phe22Leu) rs397516824 0.00006
NM_002880.4(RAF1):c.1113T>C (p.Asp371=) rs146668293 0.00002
NM_002880.4(RAF1):c.907A>G (p.Thr303Ala) rs775898894 0.00001
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965

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