ClinVar Miner

List of variants in gene EEF2 reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_001961.4(EEF2):c.1632T>C (p.His544=) rs36526 0.86134
NM_001961.4(EEF2):c.324T>C (p.His108=) rs2230560 0.24242
NM_001961.4(EEF2):c.*3G>A rs2230566 0.09803
NM_001961.4(EEF2):c.450C>T (p.Arg150=) rs2230561 0.06586
NM_001961.4(EEF2):c.567C>T (p.Ile189=) rs34017760 0.03541
NM_001961.4(EEF2):c.2424G>A (p.Ala808=) rs2230565 0.02082
NM_001961.4(EEF2):c.711C>T (p.Ala237=) rs11544964 0.01590
NM_001961.4(EEF2):c.906T>C (p.Asp302=) rs11544965 0.01578
NM_001961.4(EEF2):c.2307C>T (p.His769=) rs35805642 0.00911
NM_001961.4(EEF2):c.1668C>A (p.Ile556=) rs2305111 0.00450
NM_001961.4(EEF2):c.2067+10G>A rs138298305 0.00438
NM_001961.4(EEF2):c.2530C>T (p.Leu844=) rs34012995 0.00418
NM_001961.4(EEF2):c.2379C>T (p.Ser793=) rs151205847 0.00307
NM_001961.4(EEF2):c.1549C>T (p.Leu517=) rs148099639 0.00155
NM_001961.4(EEF2):c.2460G>C (p.Leu820=) rs145279867 0.00150
NM_001961.4(EEF2):c.2415C>T (p.Gly805=) rs143122141 0.00122
NM_001961.4(EEF2):c.1151-7C>T rs200181170 0.00121
NM_001961.4(EEF2):c.1215C>T (p.Ser405=) rs143237258 0.00120
NM_001961.4(EEF2):c.1677G>A (p.Lys559=) rs146823249 0.00108
NM_001961.4(EEF2):c.2430C>T (p.Pro810=) rs147647933 0.00074
NM_001961.4(EEF2):c.1770C>T (p.Leu590=) rs145540039 0.00070
NM_001961.4(EEF2):c.1746G>A (p.Thr582=) rs148878859 0.00056
NM_001961.4(EEF2):c.2496C>T (p.Ser832=) rs147759681 0.00053
NM_001961.4(EEF2):c.486C>T (p.Arg162=) rs2230562 0.00046
NM_001961.4(EEF2):c.1569G>A (p.Gly523=) rs3816321 0.00045
NM_001961.4(EEF2):c.1470C>T (p.His490=) rs201757568 0.00029
NM_001961.4(EEF2):c.283G>A (p.Gly95Ser) rs145985140 0.00026
NM_001961.4(EEF2):c.1233C>T (p.Tyr411=) rs79533804 0.00023
NM_001961.4(EEF2):c.288C>T (p.Ala96=) rs369558753 0.00021
NM_001961.4(EEF2):c.543C>T (p.Ile181=) rs202047073 0.00016
NM_001961.4(EEF2):c.591C>T (p.Ser197=) rs200676254 0.00016
NM_001961.4(EEF2):c.633C>T (p.Thr211=) rs144298597 0.00016
NM_001961.4(EEF2):c.741C>T (p.Ala247=) rs150801930 0.00015
NM_001961.4(EEF2):c.60C>A (p.Arg20=) rs79072361 0.00012
NM_001961.4(EEF2):c.2331C>T (p.Ala777=) rs533090086 0.00011
NM_001961.4(EEF2):c.811G>A (p.Gly271Ser) rs200480185 0.00011
NM_001961.4(EEF2):c.627C>T (p.Leu209=) rs145155508 0.00010
NM_001961.4(EEF2):c.444C>T (p.Ala148=) rs369366647 0.00009
NM_001961.4(EEF2):c.1542G>A (p.Pro514=) rs563924657 0.00008
NM_001961.4(EEF2):c.402C>T (p.Gly134=) rs150539044 0.00008
NM_001961.4(EEF2):c.153C>T (p.Ala51=) rs373815379 0.00006
NM_001961.4(EEF2):c.15G>A (p.Thr5=) rs192703161 0.00006
NM_001961.4(EEF2):c.4-8T>A rs371271708 0.00006
NM_001961.4(EEF2):c.522C>T (p.Leu174=) rs555068664 0.00006
NM_001961.4(EEF2):c.282C>T (p.Asp94=) rs527597574 0.00005
NM_001961.4(EEF2):c.1150+4C>T rs369925168 0.00004
NM_001961.4(EEF2):c.1323C>T (p.Asp441=) rs376871954 0.00004
NM_001961.4(EEF2):c.1989C>T (p.Thr663=) rs745451916 0.00004
NM_001961.4(EEF2):c.2463C>T (p.Pro821=) rs371674983 0.00004
NM_001961.4(EEF2):c.279G>A (p.Lys93=) rs547585435 0.00004
NM_001961.4(EEF2):c.791+9C>T rs757366805 0.00004
NM_001961.4(EEF2):c.1088C>T (p.Thr363Met) rs980260154 0.00003
NM_001961.4(EEF2):c.1176C>T (p.Gly392=) rs147518416 0.00003
NM_001961.4(EEF2):c.210C>T (p.Ile70=) rs771555087 0.00003
NM_001961.4(EEF2):c.1293G>A (p.Gly431=) rs745557210 0.00002
NM_001961.4(EEF2):c.1702A>G (p.Ile568Val) rs773849734 0.00002
NM_001961.4(EEF2):c.570C>T (p.Ser190=) rs750148265 0.00002
NM_001961.4(EEF2):c.837C>T (p.Ser279=) rs763528172 0.00002
NM_001961.4(EEF2):c.1168C>G (p.Pro390Ala) rs762878861 0.00001
NM_001961.4(EEF2):c.128C>T (p.Ala43Val) rs768918548 0.00001
NM_001961.4(EEF2):c.1347-8T>G rs376174565 0.00001
NM_001961.4(EEF2):c.1446G>A (p.Thr482=) rs748267250 0.00001
NM_001961.4(EEF2):c.1479C>T (p.Asn493=) rs765482573 0.00001
NM_001961.4(EEF2):c.1725G>A (p.Pro575=) rs566897549 0.00001
NM_001961.4(EEF2):c.1931C>T (p.Ala644Val) rs200589086 0.00001
NM_001961.4(EEF2):c.2383+8C>T rs1373752390 0.00001
NM_001961.4(EEF2):c.637G>T (p.Gly213Cys) rs773181804 0.00001
NM_001961.4(EEF2):c.712G>A (p.Ala238Thr) rs575523824 0.00001
NM_001961.4(EEF2):c.746G>A (p.Arg249Gln) rs769755490 0.00001
NM_001961.4(EEF2):c.801C>T (p.Asp267=) rs781779965 0.00001
NM_001961.4(EEF2):c.898-10G>A rs370446640 0.00001
NM_001961.4(EEF2):c.-7C>G rs779721890
NM_001961.4(EEF2):c.1011+5G>A
NM_001961.4(EEF2):c.1011+6G>T
NM_001961.4(EEF2):c.1107C>T (p.Cys369=)
NM_001961.4(EEF2):c.1110G>T (p.Glu370Asp)
NM_001961.4(EEF2):c.1150G>T (p.Gly384Cys) rs1439827287
NM_001961.4(EEF2):c.1251C>A (p.Phe417Leu) rs777339030
NM_001961.4(EEF2):c.1713+8G>T rs377320364
NM_001961.4(EEF2):c.1714-6T>C rs2039700420
NM_001961.4(EEF2):c.1787C>A (p.Pro596His) rs587777052
NM_001961.4(EEF2):c.1870G>A (p.Ala624Thr)
NM_001961.4(EEF2):c.1896G>A (p.Ala632=) rs373062093
NM_001961.4(EEF2):c.1908C>G (p.Ala636=) rs139427550
NM_001961.4(EEF2):c.1992C>A (p.Asp664Glu)
NM_001961.4(EEF2):c.219-10C>T
NM_001961.4(EEF2):c.2460G>T (p.Leu820=) rs145279867
NM_001961.4(EEF2):c.2507C>T (p.Ala836Val)
NM_001961.4(EEF2):c.276C>T (p.Ser92=) rs757363616
NM_001961.4(EEF2):c.318C>A (p.Pro106=)
NM_001961.4(EEF2):c.318C>T (p.Pro106=) rs548237711
NM_001961.4(EEF2):c.388G>A (p.Asp130Asn)
NM_001961.4(EEF2):c.4-3C>G rs367708754
NM_001961.4(EEF2):c.709G>A (p.Ala237Thr)
NM_001961.4(EEF2):c.713C>T (p.Ala238Val)
NM_001961.4(EEF2):c.766A>G (p.Met256Val)
NM_001961.4(EEF2):c.787G>C (p.Asp263His) rs1599196364
NM_001961.4(EEF2):c.792-4C>G rs1555684574
NM_001961.4(EEF2):c.874C>T (p.Leu292=)
NM_001961.4(EEF2):c.905A>T (p.Asp302Val) rs1292653320

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