ClinVar Miner

List of variants in gene SMARCE1 reported as uncertain significance by Ambry Genetics

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Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_003079.5(SMARCE1):c.1133C>T (p.Ala378Val) rs771281023 0.00006
NM_003079.5(SMARCE1):c.1006G>A (p.Glu336Lys) rs377136485 0.00004
NM_003079.5(SMARCE1):c.1019T>C (p.Met340Thr) rs746602244 0.00003
NM_003079.5(SMARCE1):c.872A>G (p.Gln291Arg) rs1307270981 0.00003
NM_003079.5(SMARCE1):c.443G>A (p.Arg148His) rs755039445 0.00002
NM_003079.5(SMARCE1):c.490A>G (p.Met164Val) rs752296357 0.00002
NM_003079.5(SMARCE1):c.643G>A (p.Val215Ile) rs376327613 0.00002
NM_003079.5(SMARCE1):c.1003G>A (p.Asp335Asn) rs767569116 0.00001
NM_003079.5(SMARCE1):c.1015C>G (p.Pro339Ala) rs1025768618 0.00001
NM_003079.5(SMARCE1):c.1027+5C>G rs771556643 0.00001
NM_003079.5(SMARCE1):c.1039C>G (p.Leu347Val) rs267604854 0.00001
NM_003079.5(SMARCE1):c.1042G>A (p.Glu348Lys) rs754993965 0.00001
NM_003079.5(SMARCE1):c.1090C>T (p.Pro364Ser) rs1205865722 0.00001
NM_003079.5(SMARCE1):c.1129A>G (p.Met377Val) rs781353760 0.00001
NM_003079.5(SMARCE1):c.1145C>T (p.Thr382Ile) rs1314554797 0.00001
NM_003079.5(SMARCE1):c.1148G>A (p.Ser383Asn) rs1555605079 0.00001
NM_003079.5(SMARCE1):c.1213C>G (p.Pro405Ala) rs767835921 0.00001
NM_003079.5(SMARCE1):c.157-5C>T rs776664220 0.00001
NM_003079.5(SMARCE1):c.26C>T (p.Pro9Leu) rs1415603265 0.00001
NM_003079.5(SMARCE1):c.455C>T (p.Ala152Val) rs781231331 0.00001
NM_003079.5(SMARCE1):c.487C>T (p.Arg163Cys) rs190432371 0.00001
NM_003079.5(SMARCE1):c.515G>A (p.Ser172Asn) rs2037142277 0.00001
NM_003079.5(SMARCE1):c.544T>G (p.Tyr182Asp) rs1429023644 0.00001
NM_003079.5(SMARCE1):c.562A>G (p.Met188Val) rs765003978 0.00001
NM_003079.5(SMARCE1):c.580G>A (p.Ala194Thr) rs753397709 0.00001
NM_003079.5(SMARCE1):c.716G>A (p.Arg239Gln) rs1240408861 0.00001
NM_003079.5(SMARCE1):c.741A>C (p.Gln247His) rs1356231337 0.00001
NM_003079.5(SMARCE1):c.784A>G (p.Ser262Gly) rs1432681998 0.00001
NM_003079.5(SMARCE1):c.817-3T>C rs779984224 0.00001
NM_003079.5(SMARCE1):c.932C>T (p.Ala311Val) rs768536854 0.00001
NM_003079.5(SMARCE1):c.943C>G (p.Gln315Glu) rs1597742452 0.00001
NM_003079.5(SMARCE1):c.947G>A (p.Ser316Asn) rs1307734637 0.00001
NM_003079.5(SMARCE1):c.958C>T (p.Pro320Ser) rs1176390337 0.00001
NM_003079.5(SMARCE1):c.987C>T (p.Gly329=) rs779268474 0.00001
NM_003079.5(SMARCE1):c.1008G>C (p.Glu336Asp) rs1323477202
NM_003079.5(SMARCE1):c.1009A>T (p.Asn337Tyr) rs2037085057
NM_003079.5(SMARCE1):c.1012A>G (p.Ile338Val) rs759470808
NM_003079.5(SMARCE1):c.1018A>T (p.Met340Leu)
NM_003079.5(SMARCE1):c.1027+5C>T
NM_003079.5(SMARCE1):c.1028-3C>T
NM_003079.5(SMARCE1):c.1052C>T (p.Thr351Ile) rs932391748
NM_003079.5(SMARCE1):c.1057_1058del (p.Ser353fs)
NM_003079.5(SMARCE1):c.1084T>C (p.Ser362Pro) rs750183985
NM_003079.5(SMARCE1):c.1084T>G (p.Ser362Ala)
NM_003079.5(SMARCE1):c.1085C>G (p.Ser362Cys)
NM_003079.5(SMARCE1):c.1087A>G (p.Thr363Ala) rs1555605096
NM_003079.5(SMARCE1):c.1090_1092del (p.Pro364del) rs1555605093
NM_003079.5(SMARCE1):c.1093G>A (p.Glu365Lys)
NM_003079.5(SMARCE1):c.1099A>T (p.Lys367Ter)
NM_003079.5(SMARCE1):c.1104G>C (p.Glu368Asp) rs2037062159
NM_003079.5(SMARCE1):c.1106G>A (p.Ser369Asn)
NM_003079.5(SMARCE1):c.1109G>A (p.Gly370Glu) rs2037062100
NM_003079.5(SMARCE1):c.1109G>T (p.Gly370Val) rs2037062100
NM_003079.5(SMARCE1):c.1115A>T (p.Glu372Val)
NM_003079.5(SMARCE1):c.1121T>C (p.Val374Ala) rs1597741256
NM_003079.5(SMARCE1):c.112A>T (p.Asn38Tyr)
NM_003079.5(SMARCE1):c.1135_1138del (p.Glu379fs) rs1597741244
NM_003079.5(SMARCE1):c.113A>G (p.Asn38Ser) rs915901827
NM_003079.5(SMARCE1):c.1147A>G (p.Ser383Gly) rs1322064785
NM_003079.5(SMARCE1):c.1160C>T (p.Thr387Ile)
NM_003079.5(SMARCE1):c.1180G>A (p.Ala394Thr) rs1597741198
NM_003079.5(SMARCE1):c.1183A>G (p.Thr395Ala)
NM_003079.5(SMARCE1):c.1186G>A (p.Val396Met)
NM_003079.5(SMARCE1):c.1195C>G (p.Pro399Ala) rs2037060453
NM_003079.5(SMARCE1):c.1196C>T (p.Pro399Leu) rs1397941319
NM_003079.5(SMARCE1):c.1202C>T (p.Thr401Ile) rs2037060386
NM_003079.5(SMARCE1):c.1204G>A (p.Asp402Asn) rs1597741187
NM_003079.5(SMARCE1):c.1207C>G (p.Pro403Ala)
NM_003079.5(SMARCE1):c.1211T>C (p.Ile404Thr)
NM_003079.5(SMARCE1):c.1212A>G (p.Ile404Met) rs1060501396
NM_003079.5(SMARCE1):c.1214C>T (p.Pro405Leu)
NM_003079.5(SMARCE1):c.1219G>A (p.Asp407Asn) rs139178605
NM_003079.5(SMARCE1):c.1220A>G (p.Asp407Gly)
NM_003079.5(SMARCE1):c.1222G>A (p.Glu408Lys) rs1487515718
NM_003079.5(SMARCE1):c.131A>C (p.Asn44Thr) rs761846539
NM_003079.5(SMARCE1):c.133C>T (p.Pro45Ser) rs1597749741
NM_003079.5(SMARCE1):c.142A>G (p.Asn48Asp)
NM_003079.5(SMARCE1):c.149G>A (p.Arg50Gln) rs1060501394
NM_003079.5(SMARCE1):c.151G>A (p.Val51Ile) rs1555606273
NM_003079.5(SMARCE1):c.152T>C (p.Val51Ala) rs1597749716
NM_003079.5(SMARCE1):c.156+4G>T
NM_003079.5(SMARCE1):c.175A>T (p.Ile59Phe) rs2143999589
NM_003079.5(SMARCE1):c.237+3A>G rs2143999496
NM_003079.5(SMARCE1):c.250G>A (p.Val84Ile)
NM_003079.5(SMARCE1):c.331G>C (p.Glu111Gln) rs878854601
NM_003079.5(SMARCE1):c.332A>G (p.Glu111Gly) rs2037146794
NM_003079.5(SMARCE1):c.346T>G (p.Leu116Val)
NM_003079.5(SMARCE1):c.34A>C (p.Thr12Pro) rs2037247946
NM_003079.5(SMARCE1):c.369+4G>A rs1597746280
NM_003079.5(SMARCE1):c.369+5G>A rs2037146547
NM_003079.5(SMARCE1):c.370A>T (p.Ile124Leu)
NM_003079.5(SMARCE1):c.394G>A (p.Ala132Thr)
NM_003079.5(SMARCE1):c.409C>T (p.Pro137Ser) rs2143996465
NM_003079.5(SMARCE1):c.413C>T (p.Ala138Val)
NM_003079.5(SMARCE1):c.421G>A (p.Ala141Thr) rs2037143160
NM_003079.5(SMARCE1):c.442C>T (p.Arg148Cys) rs147065057
NM_003079.5(SMARCE1):c.482A>G (p.Gln161Arg) rs1555605748
NM_003079.5(SMARCE1):c.484T>A (p.Ser162Thr) rs878854602
NM_003079.5(SMARCE1):c.508T>C (p.Tyr170His)
NM_003079.5(SMARCE1):c.511A>G (p.Met171Val) rs2037142335
NM_003079.5(SMARCE1):c.512T>C (p.Met171Thr)
NM_003079.5(SMARCE1):c.538G>A (p.Asp180Asn) rs1597746024
NM_003079.5(SMARCE1):c.539A>G (p.Asp180Gly)
NM_003079.5(SMARCE1):c.541+1G>A rs1597746020
NM_003079.5(SMARCE1):c.541+3A>G rs1555605737
NM_003079.5(SMARCE1):c.547G>A (p.Asp183Asn) rs2037103551
NM_003079.5(SMARCE1):c.577A>G (p.Thr193Ala)
NM_003079.5(SMARCE1):c.590A>G (p.Gln197Arg) rs1597743632
NM_003079.5(SMARCE1):c.602G>A (p.Arg201His) rs761299232
NM_003079.5(SMARCE1):c.611G>A (p.Ser204Asn)
NM_003079.5(SMARCE1):c.679C>G (p.Leu227Val)
NM_003079.5(SMARCE1):c.683A>C (p.Lys228Thr)
NM_003079.5(SMARCE1):c.686G>A (p.Arg229Gln) rs768981981
NM_003079.5(SMARCE1):c.695A>G (p.Gln232Arg)
NM_003079.5(SMARCE1):c.706G>A (p.Val236Ile) rs745924628
NM_003079.5(SMARCE1):c.715-4G>A
NM_003079.5(SMARCE1):c.71G>C (p.Gly24Ala)
NM_003079.5(SMARCE1):c.734TTC[1] (p.Leu246del)
NM_003079.5(SMARCE1):c.750A>C (p.Glu250Asp) rs1555605350
NM_003079.5(SMARCE1):c.752G>A (p.Arg251Gln)
NM_003079.5(SMARCE1):c.761AGA[2] (p.Lys256del) rs769002311
NM_003079.5(SMARCE1):c.767A>C (p.Lys256Thr) rs542193901
NM_003079.5(SMARCE1):c.783A>T (p.Glu261Asp) rs2143986944
NM_003079.5(SMARCE1):c.816+1G>A
NM_003079.5(SMARCE1):c.816G>T (p.Arg272Ser) rs2037096217
NM_003079.5(SMARCE1):c.820T>C (p.Cys274Arg)
NM_003079.5(SMARCE1):c.824G>A (p.Gly275Asp) rs1555605260
NM_003079.5(SMARCE1):c.830A>C (p.Lys277Thr)
NM_003079.5(SMARCE1):c.833T>C (p.Val278Ala) rs2143985196
NM_003079.5(SMARCE1):c.844A>G (p.Met282Val) rs1597742553
NM_003079.5(SMARCE1):c.847G>C (p.Glu283Gln)
NM_003079.5(SMARCE1):c.853A>G (p.Ile285Val) rs2143985147
NM_003079.5(SMARCE1):c.856G>A (p.Ala286Thr) rs751048883
NM_003079.5(SMARCE1):c.880G>A (p.Glu294Lys) rs2143985056
NM_003079.5(SMARCE1):c.887C>G (p.Ala296Gly) rs2037087035
NM_003079.5(SMARCE1):c.889C>G (p.Arg297Gly) rs562702157
NM_003079.5(SMARCE1):c.890G>A (p.Arg297His) rs1172017371
NM_003079.5(SMARCE1):c.890_891delinsCT (p.Arg297Pro)
NM_003079.5(SMARCE1):c.893A>G (p.Lys298Arg) rs956654252
NM_003079.5(SMARCE1):c.906A>C (p.Glu302Asp) rs760713355
NM_003079.5(SMARCE1):c.913_915del (p.Lys305del) rs770456331
NM_003079.5(SMARCE1):c.914A>G (p.Lys305Arg)
NM_003079.5(SMARCE1):c.917A>T (p.Glu306Val)
NM_003079.5(SMARCE1):c.940A>G (p.Ser314Gly)
NM_003079.5(SMARCE1):c.944A>G (p.Gln315Arg) rs1444576393
NM_003079.5(SMARCE1):c.950G>T (p.Ser317Ile)
NM_003079.5(SMARCE1):c.95G>A (p.Ser32Asn) rs1597749777
NM_003079.5(SMARCE1):c.985G>A (p.Gly329Ser)
NM_003079.5(SMARCE1):c.986G>T (p.Gly329Val)
NM_003079.5(SMARCE1):c.988GAG[1] (p.Glu331del)
NM_003079.5(SMARCE1):c.990_1004del (p.Glu330_Asp334del) rs2143984558
NM_003079.5(SMARCE1):c.995A>C (p.Lys332Thr) rs766656583
NM_003079.5(SMARCE1):c.997_999delinsGAC (p.Lys333Asp)

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