ClinVar Miner

List of variants in gene RAF1 reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.834+628G>A rs2596828 0.15461
NM_002880.4(RAF1):c.1755A>G (p.Val585=) rs3730296 0.02125
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00523
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00015
NM_002880.4(RAF1):c.576A>G (p.Gln192=) rs148759910 0.00015
NM_002880.4(RAF1):c.1587G>A (p.Ser529=) rs114687276 0.00014
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00013
NM_002880.4(RAF1):c.935T>C (p.Val312Ala) rs370243307 0.00010
NM_002880.4(RAF1):c.297C>T (p.Phe99=) rs376509458 0.00008
NM_002880.4(RAF1):c.834+611A>G rs754338208 0.00003
NM_002880.4(RAF1):c.1023T>C (p.Tyr341=) rs373173925 0.00001
NM_002880.4(RAF1):c.1050G>T (p.Met350Ile) rs368860450 0.00001
NM_002880.4(RAF1):c.1075T>C (p.Ser359Pro) rs765433002 0.00001
NM_002880.4(RAF1):c.1657A>C (p.Asn553His) rs745876012 0.00001
NM_002880.4(RAF1):c.1741A>G (p.Met581Val) rs752063874 0.00001
NM_002880.4(RAF1):c.1923G>A (p.Thr641=) rs148528418 0.00001
NM_002880.4(RAF1):c.29C>T (p.Thr10Met) rs144637992 0.00001
NM_002880.4(RAF1):c.434C>T (p.Thr145Met) rs762448032 0.00001
NM_002880.4(RAF1):c.673C>G (p.Pro225Ala) rs1162264411 0.00001
NM_002880.4(RAF1):c.708C>T (p.His236=) rs370658857 0.00001
NM_002880.4(RAF1):c.898C>A (p.Leu300Met) rs1183645997 0.00001
NM_002880.3(RAF1):c.1804-11_1804-7dup rs727503382
NM_002880.3:c.(?_-1)_(1370+1_1371-1)dup
NM_002880.4(RAF1):c.1019A>G (p.Tyr340Cys) rs2058798881
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_002880.4(RAF1):c.1516A>G (p.Thr506Ala) rs778788727
NM_002880.4(RAF1):c.1707T>C (p.Asp569=)
NM_002880.4(RAF1):c.1803+6G>C rs1553609870
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.227T>G (p.Met76Arg)
NM_002880.4(RAF1):c.264G>A (p.Val88=) rs1189963978
NM_002880.4(RAF1):c.424-5_424-3del rs764020787
NM_002880.4(RAF1):c.60C>T (p.Ala20=) rs755869970
NM_002880.4(RAF1):c.627A>C (p.Leu209=) rs759564229
NM_002880.4(RAF1):c.718T>C (p.Phe240Leu)
NM_002880.4(RAF1):c.752T>A (p.Leu251His) rs1553613787
NM_002880.4(RAF1):c.844C>T (p.Arg282Ter) rs755926381
NM_002880.4(RAF1):c.896A>G (p.Asn299Ser) rs866428774

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