ClinVar Miner

List of variants reported as uncertain significance for Familial meningioma by Baylor Genetics

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ClinVar version:
Total variants: 183
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met) rs137880855 0.00014
NM_016169.4(SUFU):c.1121A>G (p.Asn374Ser) rs1265012285 0.00011
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met) rs368020224 0.00011
NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg) rs542193901 0.00010
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly) rs368178771 0.00009
NM_016169.4(SUFU):c.1028G>A (p.Arg343His) rs79299301 0.00008
NM_003079.5(SMARCE1):c.938G>A (p.Arg313His) rs201577008 0.00007
NM_003079.5(SMARCE1):c.1067A>G (p.Asn356Ser) rs151220618 0.00006
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile) rs149449923 0.00006
NM_016169.4(SUFU):c.38C>T (p.Thr13Ile) rs768935165 0.00006
NM_016169.4(SUFU):c.925C>T (p.Arg309Trp) rs148160011 0.00006
NM_003079.5(SMARCE1):c.1095G>C (p.Glu365Asp) rs773859296 0.00005
NM_016169.4(SUFU):c.43C>A (p.Pro15Thr) rs761921681 0.00005
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln) rs141359583 0.00005
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys) rs765540111 0.00004
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr) rs771308672 0.00004
NM_003079.5(SMARCE1):c.823G>A (p.Gly275Ser) rs745448272 0.00004
NM_003079.5(SMARCE1):c.922G>A (p.Ala308Thr) rs372988818 0.00004
NM_016169.4(SUFU):c.866G>A (p.Arg289Gln) rs149016373 0.00004
NM_016169.4(SUFU):c.991C>T (p.Arg331Trp) rs768170991 0.00004
NM_000268.4(NF2):c.1055C>T (p.Thr352Met) rs764441073 0.00003
NM_003079.5(SMARCE1):c.369G>A (p.Lys123=) rs746320191 0.00003
NM_016169.4(SUFU):c.109A>G (p.Ile37Val) rs745793517 0.00003
NM_016169.4(SUFU):c.506A>G (p.Asn169Ser) rs142672533 0.00003
NM_016169.4(SUFU):c.896G>A (p.Arg299Gln) rs374946819 0.00003
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys) rs761795291 0.00002
NM_000268.4(NF2):c.683A>G (p.Lys228Arg) rs145384260 0.00002
NM_000268.4(NF2):c.916C>G (p.Leu306Val) rs1399716137 0.00002
NM_002430.3(MN1):c.3274G>A (p.Gly1092Arg) rs771925230 0.00002
NM_003079.5(SMARCE1):c.506C>T (p.Pro169Leu) rs775997908 0.00002
NM_003079.5(SMARCE1):c.961G>A (p.Glu321Lys) rs925142025 0.00002
NM_003079.5(SMARCE1):c.988G>A (p.Glu330Lys) rs755389218 0.00002
NM_016169.4(SUFU):c.1280A>G (p.His427Arg) rs771305734 0.00002
NM_016169.4(SUFU):c.225G>T (p.Arg75Ser) rs141532626 0.00002
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr) rs746322193 0.00002
NM_016169.4(SUFU):c.892C>T (p.Arg298Trp) rs771255988 0.00002
NM_016169.4(SUFU):c.926G>A (p.Arg309Gln) rs770246373 0.00002
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys) rs376797758 0.00002
NM_000268.4(NF2):c.1174G>A (p.Glu392Lys) rs1026724985 0.00001
NM_000268.4(NF2):c.1396C>G (p.Arg466Gly) rs74315504 0.00001
NM_000268.4(NF2):c.1400G>A (p.Arg467Lys) rs1294032875 0.00001
NM_000268.4(NF2):c.1446G>A (p.Pro482=) rs753751373 0.00001
NM_000268.4(NF2):c.1675G>T (p.Asp559Tyr) rs917012886 0.00001
NM_000268.4(NF2):c.1706G>A (p.Gly569Asp) rs781488145 0.00001
NM_000268.4(NF2):c.302A>G (p.Tyr101Cys) rs1240469044 0.00001
NM_000268.4(NF2):c.347A>G (p.His116Arg) rs371373672 0.00001
NM_000268.4(NF2):c.457T>C (p.Tyr153His) rs1374299963 0.00001
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371 0.00001
NM_000268.4(NF2):c.713C>T (p.Ala238Val) rs761195572 0.00001
NM_000268.4(NF2):c.770C>T (p.Pro257Leu) rs753300935 0.00001
NM_003079.5(SMARCE1):c.1042G>A (p.Glu348Lys) rs754993965 0.00001
NM_003079.5(SMARCE1):c.1082C>T (p.Thr361Met) rs766200637 0.00001
NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn) rs746301638 0.00001
NM_003079.5(SMARCE1):c.1129A>G (p.Met377Val) rs781353760 0.00001
NM_003079.5(SMARCE1):c.1148G>A (p.Ser383Asn) rs1555605079 0.00001
NM_003079.5(SMARCE1):c.1159A>C (p.Thr387Pro) rs1270010378 0.00001
NM_003079.5(SMARCE1):c.1166C>T (p.Ser389Leu) rs376181802 0.00001
NM_003079.5(SMARCE1):c.1213C>G (p.Pro405Ala) rs767835921 0.00001
NM_003079.5(SMARCE1):c.238-15T>A rs766494520 0.00001
NM_003079.5(SMARCE1):c.562A>G (p.Met188Val) rs765003978 0.00001
NM_003079.5(SMARCE1):c.868G>A (p.Ala290Thr) rs1395650269 0.00001
NM_003079.5(SMARCE1):c.932C>T (p.Ala311Val) rs768536854 0.00001
NM_003079.5(SMARCE1):c.937C>T (p.Arg313Cys) rs769672368 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_016169.4(SUFU):c.1015C>T (p.Arg339Trp) rs773037813 0.00001
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln) rs369910221 0.00001
NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys) rs751728820 0.00001
NM_016169.4(SUFU):c.107C>T (p.Ala36Val) rs566714720 0.00001
NM_016169.4(SUFU):c.1085G>A (p.Arg362His) rs755390277 0.00001
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp) rs201326378 0.00001
NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys) rs766370528 0.00001
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg) rs778125780 0.00001
NM_016169.4(SUFU):c.13C>T (p.Arg5Trp) rs948353979 0.00001
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys) rs770989077 0.00001
NM_016169.4(SUFU):c.26C>T (p.Ala9Val) rs775491374 0.00001
NM_016169.4(SUFU):c.329C>G (p.Thr110Arg) rs1171604398 0.00001
NM_016169.4(SUFU):c.427G>A (p.Gly143Ser) rs1590019047 0.00001
NM_016169.4(SUFU):c.637C>G (p.Gln213Glu) rs907135467 0.00001
NM_016169.4(SUFU):c.728C>A (p.Thr243Asn) rs544734275 0.00001
NM_016169.4(SUFU):c.838C>T (p.Arg280Trp) rs761003435 0.00001
NM_016169.4(SUFU):c.848A>G (p.Glu283Gly) rs763598499 0.00001
NM_016169.4(SUFU):c.943G>A (p.Gly315Arg) rs141737156 0.00001
NM_016169.4(SUFU):c.979A>G (p.Ile327Val) rs752846043 0.00001
NM_000268.4(NF2):c.1000A>G (p.Met334Val) rs1556000094
NM_000268.4(NF2):c.1022G>A (p.Arg341Gln) rs754087071
NM_000268.4(NF2):c.114+4A>G rs1207246677
NM_000268.4(NF2):c.1142C>T (p.Ala381Val)
NM_000268.4(NF2):c.1237A>G (p.Lys413Glu) rs766974263
NM_000268.4(NF2):c.1271G>C (p.Arg424Pro)
NM_000268.4(NF2):c.133G>T (p.Asp45Tyr)
NM_000268.4(NF2):c.1341G>T (p.Arg447Ser)
NM_000268.4(NF2):c.1507G>T (p.Asp503Tyr)
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln) rs1569309694
NM_000268.4(NF2):c.1562T>C (p.Ile521Thr)
NM_000268.4(NF2):c.1575-24T>A
NM_000268.4(NF2):c.1577T>C (p.Val526Ala)
NM_000268.4(NF2):c.1585A>G (p.Met529Val) rs1456599218
NM_000268.4(NF2):c.1600C>T (p.His534Tyr) rs769370159
NM_000268.4(NF2):c.1615C>G (p.Leu539Val)
NM_000268.4(NF2):c.1635A>T (p.Glu545Asp) rs1556003698
NM_000268.4(NF2):c.1661G>A (p.Arg554Lys) rs2067134618
NM_000268.4(NF2):c.1667C>T (p.Thr556Ile)
NM_000268.4(NF2):c.1712G>T (p.Ser571Ile)
NM_000268.4(NF2):c.1729A>G (p.Ile577Val)
NM_000268.4(NF2):c.202A>G (p.Ile68Val)
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.22_23delinsAA (p.Arg8Asn)
NM_000268.4(NF2):c.263A>G (p.Lys88Arg) rs547255779
NM_000268.4(NF2):c.345A>T (p.Gln115His) rs746369012
NM_000268.4(NF2):c.35G>C (p.Ser12Thr)
NM_000268.4(NF2):c.376A>G (p.Ile126Val) rs780483061
NM_000268.4(NF2):c.388A>G (p.Lys130Glu)
NM_000268.4(NF2):c.391A>C (p.Ile131Leu) rs878853927
NM_000268.4(NF2):c.447+166T>G
NM_000268.4(NF2):c.460G>A (p.Asp154Asn)
NM_000268.4(NF2):c.463C>G (p.Pro155Ala) rs2066246942
NM_000268.4(NF2):c.469G>C (p.Val157Leu)
NM_000268.4(NF2):c.475_476inv (p.Lys159Leu)
NM_000268.4(NF2):c.558G>C (p.Glu186Asp) rs1325902176
NM_000268.4(NF2):c.55C>T (p.Pro19Ser) rs1477242482
NM_000268.4(NF2):c.593G>A (p.Arg198Gln) rs2146973900
NM_000268.4(NF2):c.670A>G (p.Ile224Val) rs1555994825
NM_000268.4(NF2):c.675+172G>T
NM_000268.4(NF2):c.675+182A>G
NM_000268.4(NF2):c.74G>A (p.Arg25Lys) rs1569259813
NM_000268.4(NF2):c.754C>G (p.Pro252Ala) rs2066469878
NM_000268.4(NF2):c.7G>C (p.Gly3Arg)
NM_000268.4(NF2):c.99G>A (p.Met33Ile)
NM_003079.5(SMARCE1):c.1033A>C (p.Thr345Pro) rs1597741316
NM_003079.5(SMARCE1):c.1054G>C (p.Glu352Gln)
NM_003079.5(SMARCE1):c.1070G>A (p.Gly357Asp) rs2143980805
NM_003079.5(SMARCE1):c.1073AAG[1] (p.Glu359del) rs765354113
NM_003079.5(SMARCE1):c.1075G>T (p.Glu359Ter)
NM_003079.5(SMARCE1):c.1078G>C (p.Gly360Arg) rs976928947
NM_003079.5(SMARCE1):c.1088C>T (p.Thr363Ile)
NM_003079.5(SMARCE1):c.1117G>A (p.Gly373Arg) rs2037061907
NM_003079.5(SMARCE1):c.1177A>G (p.Ser393Gly) rs775907713
NM_003079.5(SMARCE1):c.1180G>A (p.Ala394Thr) rs1597741198
NM_003079.5(SMARCE1):c.1186G>A (p.Val396Met)
NM_003079.5(SMARCE1):c.151G>T (p.Val51Phe)
NM_003079.5(SMARCE1):c.175A>T (p.Ile59Phe) rs2143999589
NM_003079.5(SMARCE1):c.330A>C (p.Glu110Asp) rs372964610
NM_003079.5(SMARCE1):c.665C>G (p.Ala222Gly)
NM_003079.5(SMARCE1):c.748G>A (p.Glu250Lys)
NM_003079.5(SMARCE1):c.889C>T (p.Arg297Cys) rs562702157
NM_003079.5(SMARCE1):c.893A>G (p.Lys298Arg) rs956654252
NM_003079.5(SMARCE1):c.913_915del (p.Lys305del) rs770456331
NM_003079.5(SMARCE1):c.938G>T (p.Arg313Leu) rs201577008
NM_003079.5(SMARCE1):c.944A>G (p.Gln315Arg) rs1444576393
NM_016169.4(SUFU):c.1016G>C (p.Arg339Pro) rs369910221
NM_016169.4(SUFU):c.1034A>G (p.Asp345Gly) rs1590082122
NM_016169.4(SUFU):c.103C>T (p.His35Tyr)
NM_016169.4(SUFU):c.1082T>G (p.Ile361Ser)
NM_016169.4(SUFU):c.1180C>G (p.His394Asp)
NM_016169.4(SUFU):c.1196G>A (p.Ser399Asn) rs1421345157
NM_016169.4(SUFU):c.1333G>A (p.Glu445Lys)
NM_016169.4(SUFU):c.137C>G (p.Pro46Arg)
NM_016169.4(SUFU):c.16C>T (p.Pro6Ser) rs2062288467
NM_016169.4(SUFU):c.247A>G (p.Asn83Asp) rs2135620366
NM_016169.4(SUFU):c.52_75del (p.10_17PGPTAPPA[1]) rs1426839991
NM_016169.4(SUFU):c.56G>T (p.Gly19Val)
NM_016169.4(SUFU):c.58C>G (p.Pro20Ala)
NM_016169.4(SUFU):c.598-83G>A
NM_016169.4(SUFU):c.59C>G (p.Pro20Arg)
NM_016169.4(SUFU):c.657C>G (p.Ile219Met)
NM_016169.4(SUFU):c.68C>G (p.Pro23Arg)
NM_016169.4(SUFU):c.694C>G (p.Pro232Ala) rs1060501110
NM_016169.4(SUFU):c.70C>G (p.Pro24Ala) rs1219870817
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln) rs1403040084
NM_016169.4(SUFU):c.777C>G (p.Ile259Met) rs749533220
NM_016169.4(SUFU):c.826G>T (p.Asp276Tyr)
NM_016169.4(SUFU):c.83C>T (p.Ser28Leu)
NM_016169.4(SUFU):c.848A>C (p.Glu283Ala)
NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup) rs1363458155
NM_016169.4(SUFU):c.858G>C (p.Glu286Asp) rs1007675139
NM_016169.4(SUFU):c.865C>T (p.Arg289Trp) rs755961394
NM_016169.4(SUFU):c.86T>G (p.Leu29Arg) rs2062291773
NM_016169.4(SUFU):c.877A>G (p.Ile293Val) rs574002050
NM_016169.4(SUFU):c.878T>A (p.Ile293Asn) rs1487599100
NM_016169.4(SUFU):c.944G>C (p.Gly315Ala)

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