ClinVar Miner

List of variants reported as uncertain significance for Familial meningioma

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ClinVar version:
Total variants: 473
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HGVS dbSNP gnomAD frequency
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile) rs140414666 0.00015
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_003079.5(SMARCE1):c.1133C>T (p.Ala378Val) rs771281023 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.992G>A (p.Arg331Gln) rs141359583 0.00005
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys) rs765540111 0.00004
NM_003079.5(SMARCE1):c.1006G>A (p.Glu336Lys) rs377136485 0.00004
NM_003079.5(SMARCE1):c.1226A>G (p.Lys409Arg) rs770346178 0.00004
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr) rs771308672 0.00004
NM_003079.5(SMARCE1):c.57G>T (p.Met19Ile) rs142279746 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.991C>T (p.Arg331Trp) rs768170991 0.00004
NM_003079.5(SMARCE1):c.1002C>G (p.Asp334Glu) rs750483952 0.00003
NM_003079.5(SMARCE1):c.1019T>C (p.Met340Thr) rs746602244 0.00003
NM_003079.5(SMARCE1):c.369G>A (p.Lys123=) rs746320191 0.00003
NM_003079.5(SMARCE1):c.872A>G (p.Gln291Arg) rs1307270981 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_000268.4(NF2):c.1012C>T (p.Arg338Cys) rs761795291 0.00002
NM_000268.4(NF2):c.683A>G (p.Lys228Arg) rs145384260 0.00002
NM_002430.3(MN1):c.3274G>A (p.Gly1092Arg) rs771925230 0.00002
NM_003079.5(SMARCE1):c.1010A>G (p.Asn337Ser) rs765235194 0.00002
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.506C>T (p.Pro169Leu) rs775997908 0.00002
NM_003079.5(SMARCE1):c.643G>A (p.Val215Ile) rs376327613 0.00002
NM_003079.5(SMARCE1):c.860C>G (p.Ala287Gly) rs201158885 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.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.1232G>A (p.Arg411His) rs201214090 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.302A>G (p.Tyr101Cys) rs1240469044 0.00001
NM_000268.4(NF2):c.347A>G (p.His116Arg) rs371373672 0.00001
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371 0.00001
NM_000268.4(NF2):c.676-104G>A rs1040559021 0.00001
NM_000268.4(NF2):c.713C>T (p.Ala238Val) rs761195572 0.00001
NM_002608.4(PDGFB):c.716T>C (p.Leu239Pro) rs1932148548 0.00001
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.1016C>T (p.Pro339Leu) rs1060501398 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.1055A>G (p.Glu352Gly) rs1198138077 0.00001
NM_003079.5(SMARCE1):c.1082C>T (p.Thr361Met) rs766200637 0.00001
NM_003079.5(SMARCE1):c.1090C>T (p.Pro364Ser) rs1205865722 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.1145C>T (p.Thr382Ile) rs1314554797 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.1165T>C (p.Ser389Pro) rs758595837 0.00001
NM_003079.5(SMARCE1):c.1166C>T (p.Ser389Leu) rs376181802 0.00001
NM_003079.5(SMARCE1):c.1210A>G (p.Ile404Val) rs751165188 0.00001
NM_003079.5(SMARCE1):c.1213C>G (p.Pro405Ala) rs767835921 0.00001
NM_003079.5(SMARCE1):c.173C>T (p.Thr58Met) rs1353575590 0.00001
NM_003079.5(SMARCE1):c.238-15T>A rs766494520 0.00001
NM_003079.5(SMARCE1):c.26C>T (p.Pro9Leu) rs1415603265 0.00001
NM_003079.5(SMARCE1):c.386C>A (p.Ser129Tyr) rs769255223 0.00001
NM_003079.5(SMARCE1):c.440G>A (p.Ser147Asn) rs779169160 0.00001
NM_003079.5(SMARCE1):c.455C>T (p.Ala152Val) rs781231331 0.00001
NM_003079.5(SMARCE1):c.473G>A (p.Arg158Gln) rs757138170 0.00001
NM_003079.5(SMARCE1):c.487C>T (p.Arg163Cys) rs190432371 0.00001
NM_003079.5(SMARCE1):c.488G>A (p.Arg163His) rs762623799 0.00001
NM_003079.5(SMARCE1):c.515G>A (p.Ser172Asn) rs2037142277 0.00001
NM_003079.5(SMARCE1):c.517A>G (p.Ile173Val) rs2037142228 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.647G>A (p.Arg216Gln) rs1213211505 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.868G>A (p.Ala290Thr) rs1395650269 0.00001
NM_003079.5(SMARCE1):c.901G>A (p.Glu301Lys) rs1442599198 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.956T>C (p.Val319Ala) rs758831830 0.00001
NM_003079.5(SMARCE1):c.958C>T (p.Pro320Ser) rs1176390337 0.00001
NM_003079.5(SMARCE1):c.959C>T (p.Pro320Leu) rs2037085756 0.00001
NM_003079.5(SMARCE1):c.986G>A (p.Gly329Asp) rs2037085537 0.00001
NM_003079.5(SMARCE1):c.987C>T (p.Gly329=) rs779268474 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.427G>A (p.Gly143Ser) rs1590019047 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.943G>A (p.Gly315Arg) rs141737156 0.00001
NC_000017.10:g.(?_38785027)_(38804103_?)dup
NC_000017.10:g.(?_38798697)_(38804103_?)dup
NC_000017.11:g.(?_40628785)_(40647851_?)dup
NM_000268.4(NF2):c.1000A>G (p.Met334Val) rs1556000094
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.1341G>T (p.Arg447Ser)
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln) rs1569309694
NM_000268.4(NF2):c.1575-24T>A
NM_000268.4(NF2):c.1615C>G (p.Leu539Val)
NM_000268.4(NF2):c.1667C>T (p.Thr556Ile)
NM_000268.4(NF2):c.202A>G (p.Ile68Val)
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
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.391A>C (p.Ile131Leu) rs878853927
NM_000268.4(NF2):c.447+166T>G
NM_000268.4(NF2):c.463C>G (p.Pro155Ala) rs2066246942
NM_000268.4(NF2):c.475_476inv (p.Lys159Leu)
NM_000268.4(NF2):c.4G>T (p.Ala2Ser) rs1601515682
NM_000268.4(NF2):c.558G>C (p.Glu186Asp) rs1325902176
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.7G>C (p.Gly3Arg)
NM_000314.8(PTEN):c.166T>A (p.Phe56Ile) rs1589640376
NM_000314.8(PTEN):c.734A>C (p.Gln245Pro) rs1057518538
NM_003079.5(SMARCE1):c.1005C>A (p.Asp335Glu)
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.1018A>G (p.Met340Val)
NM_003079.5(SMARCE1):c.1018A>T (p.Met340Leu)
NM_003079.5(SMARCE1):c.1020G>T (p.Met340Ile)
NM_003079.5(SMARCE1):c.1023G>C (p.Glu341Asp)
NM_003079.5(SMARCE1):c.1025C>G (p.Thr342Arg) rs367908836
NM_003079.5(SMARCE1):c.1027+6C>A
NM_003079.5(SMARCE1):c.1027+6C>G rs1245988748
NM_003079.5(SMARCE1):c.1028A>C (p.Glu343Ala)
NM_003079.5(SMARCE1):c.1030G>A (p.Glu344Lys) rs1413261743
NM_003079.5(SMARCE1):c.1033A>C (p.Thr345Pro) rs1597741316
NM_003079.5(SMARCE1):c.1033A>G (p.Thr345Ala) rs1597741316
NM_003079.5(SMARCE1):c.1034C>G (p.Thr345Arg) rs1597741310
NM_003079.5(SMARCE1):c.1036C>A (p.His346Asn) rs751700497
NM_003079.5(SMARCE1):c.1037A>G (p.His346Arg)
NM_003079.5(SMARCE1):c.1038C>G (p.His346Gln) rs1597741306
NM_003079.5(SMARCE1):c.1043A>G (p.Glu348Gly) rs2037063064
NM_003079.5(SMARCE1):c.1049C>G (p.Thr350Arg)
NM_003079.5(SMARCE1):c.1052C>G (p.Thr351Arg) rs932391748
NM_003079.5(SMARCE1):c.1053_1054delinsTA (p.Glu352Lys)
NM_003079.5(SMARCE1):c.1054G>A (p.Glu352Lys) rs2143980865
NM_003079.5(SMARCE1):c.1054G>C (p.Glu352Gln)
NM_003079.5(SMARCE1):c.1057A>C (p.Ser353Arg) rs2037062951
NM_003079.5(SMARCE1):c.1057A>G (p.Ser353Gly) rs2037062951
NM_003079.5(SMARCE1):c.1057_1058del (p.Ser353fs)
NM_003079.5(SMARCE1):c.1058G>A (p.Ser353Asn) rs2143980847
NM_003079.5(SMARCE1):c.1061A>G (p.Gln354Arg)
NM_003079.5(SMARCE1):c.1064A>G (p.Gln355Arg) rs1567844710
NM_003079.5(SMARCE1):c.1066_1067insGTTCTTCACAACAGA (p.Gln355_Asn356insSerSerSerGlnGln) rs2143980822
NM_003079.5(SMARCE1):c.1068_1076dup (p.Glu358_Glu359insAspGlyGlu)
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>A (p.Glu359Lys)
NM_003079.5(SMARCE1):c.1075G>T (p.Glu359Ter)
NM_003079.5(SMARCE1):c.1078G>C (p.Gly360Arg) rs976928947
NM_003079.5(SMARCE1):c.107A>G (p.Tyr36Cys)
NM_003079.5(SMARCE1):c.1081A>G (p.Thr361Ala) rs2143980763
NM_003079.5(SMARCE1):c.1084T>C (p.Ser362Pro) rs750183985
NM_003079.5(SMARCE1):c.1086_1087delinsAT (p.Thr363Ser) rs2037062544
NM_003079.5(SMARCE1):c.1087A>G (p.Thr363Ala) rs1555605096
NM_003079.5(SMARCE1):c.1088C>G (p.Thr363Ser) rs1247688181
NM_003079.5(SMARCE1):c.1088C>T (p.Thr363Ile)
NM_003079.5(SMARCE1):c.1090C>G (p.Pro364Ala) rs1205865722
NM_003079.5(SMARCE1):c.1090_1092del (p.Pro364del) rs1555605093
NM_003079.5(SMARCE1):c.1102G>T (p.Glu368Ter) rs2037062233
NM_003079.5(SMARCE1):c.1103A>G (p.Glu368Gly) rs1555605086
NM_003079.5(SMARCE1):c.1104G>C (p.Glu368Asp) rs2037062159
NM_003079.5(SMARCE1):c.1106G>C (p.Ser369Thr)
NM_003079.5(SMARCE1):c.1108G>A (p.Gly370Arg) rs2143980642
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.110A>G (p.Asn37Ser) rs1597749763
NM_003079.5(SMARCE1):c.1115A>C (p.Glu372Ala) rs2037061989
NM_003079.5(SMARCE1):c.1115A>G (p.Glu372Gly)
NM_003079.5(SMARCE1):c.1117G>A (p.Gly373Arg) rs2037061907
NM_003079.5(SMARCE1):c.1120G>C (p.Val374Leu) rs1165295357
NM_003079.5(SMARCE1):c.1120del (p.Val374fs)
NM_003079.5(SMARCE1):c.1121T>C (p.Val374Ala) rs1597741256
NM_003079.5(SMARCE1):c.1126A>C (p.Ser376Arg) rs2037061648
NM_003079.5(SMARCE1):c.1126A>G (p.Ser376Gly) rs2037061648
NM_003079.5(SMARCE1):c.1130T>C (p.Met377Thr)
NM_003079.5(SMARCE1):c.113A>G (p.Asn38Ser) rs915901827
NM_003079.5(SMARCE1):c.1142G>A (p.Gly381Glu)
NM_003079.5(SMARCE1):c.1144A>G (p.Thr382Ala) rs1597741239
NM_003079.5(SMARCE1):c.1145C>G (p.Thr382Ser)
NM_003079.5(SMARCE1):c.1147A>C (p.Ser383Arg)
NM_003079.5(SMARCE1):c.1147A>G (p.Ser383Gly) rs1322064785
NM_003079.5(SMARCE1):c.1148G>C (p.Ser383Thr)
NM_003079.5(SMARCE1):c.1155T>G (p.Ser385Arg) rs1597741226
NM_003079.5(SMARCE1):c.1156A>G (p.Asn386Asp) rs1555605077
NM_003079.5(SMARCE1):c.1163G>A (p.Gly388Asp)
NM_003079.5(SMARCE1):c.1166C>G (p.Ser389Trp) rs376181802
NM_003079.5(SMARCE1):c.116A>G (p.Tyr39Cys)
NM_003079.5(SMARCE1):c.1170G>T (p.Glu390Asp) rs2037060934
NM_003079.5(SMARCE1):c.1171A>G (p.Ser391Gly) rs2143980380
NM_003079.5(SMARCE1):c.1172G>A (p.Ser391Asn) rs1298633600
NM_003079.5(SMARCE1):c.1172G>C (p.Ser391Thr) rs1298633600
NM_003079.5(SMARCE1):c.1174A>G (p.Asn392Asp) rs2037060809
NM_003079.5(SMARCE1):c.1175A>G (p.Asn392Ser)
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>C (p.Val396Leu) rs767236696
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.1198C>G (p.Pro400Ala) rs2143980289
NM_003079.5(SMARCE1):c.1198C>T (p.Pro400Ser) rs2143980289
NM_003079.5(SMARCE1):c.119G>A (p.Arg40Lys)
NM_003079.5(SMARCE1):c.1202C>T (p.Thr401Ile) rs2037060386
NM_003079.5(SMARCE1):c.120G>T (p.Arg40Ser)
NM_003079.5(SMARCE1):c.1211T>A (p.Ile404Lys)
NM_003079.5(SMARCE1):c.1212A>G (p.Ile404Met) rs1060501396
NM_003079.5(SMARCE1):c.1213C>T (p.Pro405Ser)
NM_003079.5(SMARCE1):c.1217A>C (p.Glu406Ala) rs2037060002
NM_003079.5(SMARCE1):c.1219G>A (p.Asp407Asn) rs139178605
NM_003079.5(SMARCE1):c.1219G>T (p.Asp407Tyr)
NM_003079.5(SMARCE1):c.121C>T (p.Leu41=)
NM_003079.5(SMARCE1):c.1220A>T (p.Asp407Val)
NM_003079.5(SMARCE1):c.1222G>A (p.Glu408Lys) rs1487515718
NM_003079.5(SMARCE1):c.1226A>T (p.Lys409Ile)
NM_003079.5(SMARCE1):c.1231G>A (p.Glu411Lys) rs62622817
NM_003079.5(SMARCE1):c.1233A>G (p.Glu411=) rs1555605056
NM_003079.5(SMARCE1):c.1234_1235insTTT (p.*412Pheext*1) rs2143980165
NM_003079.5(SMARCE1):c.131A>C (p.Asn44Thr) rs761846539
NM_003079.5(SMARCE1):c.132C>G (p.Asn44Lys) rs570462841
NM_003079.5(SMARCE1):c.133C>G (p.Pro45Ala)
NM_003079.5(SMARCE1):c.133C>T (p.Pro45Ser) rs1597749741
NM_003079.5(SMARCE1):c.134C>T (p.Pro45Leu) rs1249552995
NM_003079.5(SMARCE1):c.137G>A (p.Gly46Asp) rs2037209184
NM_003079.5(SMARCE1):c.148C>G (p.Arg50Gly) rs2037209097
NM_003079.5(SMARCE1):c.149G>A (p.Arg50Gln) rs1060501394
NM_003079.5(SMARCE1):c.151G>T (p.Val51Phe)
NM_003079.5(SMARCE1):c.152T>G (p.Val51Gly) rs1597749716
NM_003079.5(SMARCE1):c.155C>T (p.Thr52Met) rs909376128
NM_003079.5(SMARCE1):c.156+4G>A
NM_003079.5(SMARCE1):c.156+6A>G
NM_003079.5(SMARCE1):c.166G>A (p.Gly56Ser)
NM_003079.5(SMARCE1):c.169A>T (p.Ile57Phe) rs2143999604
NM_003079.5(SMARCE1):c.175A>T (p.Ile59Phe) rs2143999589
NM_003079.5(SMARCE1):c.1dup (p.Met1fs) rs2144015619
NM_003079.5(SMARCE1):c.22G>A (p.Ala8Thr)
NM_003079.5(SMARCE1):c.237+3A>G rs2143999496
NM_003079.5(SMARCE1):c.237+4G>A rs2037158242
NM_003079.5(SMARCE1):c.237G>A (p.Lys79=)
NM_003079.5(SMARCE1):c.248A>G (p.Gln83Arg) rs2037147392
NM_003079.5(SMARCE1):c.263A>G (p.Asn88Ser)
NM_003079.5(SMARCE1):c.268G>A (p.Asp90Asn)
NM_003079.5(SMARCE1):c.279G>T (p.Leu93Phe) rs2037147129
NM_003079.5(SMARCE1):c.28C>T (p.Pro10Ser) rs1413469817
NM_003079.5(SMARCE1):c.298A>T (p.Ile100Phe)
NM_003079.5(SMARCE1):c.302G>A (p.Gly101Asp) rs2037147008
NM_003079.5(SMARCE1):c.314G>A (p.Arg105Gln) rs2037146907
NM_003079.5(SMARCE1):c.326A>G (p.Asp109Gly) rs2143997323
NM_003079.5(SMARCE1):c.328G>A (p.Glu110Lys) rs2143997316
NM_003079.5(SMARCE1):c.330A>C (p.Glu110Asp) rs372964610
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.337C>A (p.Gln113Lys) rs2143997301
NM_003079.5(SMARCE1):c.346T>G (p.Leu116Val)
NM_003079.5(SMARCE1):c.34A>C (p.Thr12Pro) rs2037247946
NM_003079.5(SMARCE1):c.352G>A (p.Glu118Lys) rs1131691457
NM_003079.5(SMARCE1):c.365A>G (p.Glu122Gly)
NM_003079.5(SMARCE1):c.369+4G>A rs1597746280
NM_003079.5(SMARCE1):c.369+4G>C rs1597746280
NM_003079.5(SMARCE1):c.369+5G>A rs2037146547
NM_003079.5(SMARCE1):c.369+6G>A rs200391280
NM_003079.5(SMARCE1):c.370-6T>C rs1060501397
NM_003079.5(SMARCE1):c.370A>G (p.Ile124Val)
NM_003079.5(SMARCE1):c.373G>C (p.Glu125Gln) rs762580699
NM_003079.5(SMARCE1):c.37C>T (p.Pro13Ser) rs1398882535
NM_003079.5(SMARCE1):c.380A>G (p.Asn127Ser) rs2143996566
NM_003079.5(SMARCE1):c.388A>G (p.Met130Val) rs2143996528
NM_003079.5(SMARCE1):c.38C>T (p.Pro13Leu)
NM_003079.5(SMARCE1):c.394G>A (p.Ala132Thr)
NM_003079.5(SMARCE1):c.395C>T (p.Ala132Val)
NM_003079.5(SMARCE1):c.398A>G (p.Tyr133Cys) rs2143996507
NM_003079.5(SMARCE1):c.409C>T (p.Pro137Ser) rs2143996465
NM_003079.5(SMARCE1):c.40G>A (p.Ala14Thr)
NM_003079.5(SMARCE1):c.413C>T (p.Ala138Val)
NM_003079.5(SMARCE1):c.421G>A (p.Ala141Thr) rs2037143160
NM_003079.5(SMARCE1):c.425A>T (p.Tyr142Phe) rs1567847087
NM_003079.5(SMARCE1):c.427A>G (p.Ile143Val) rs772432672
NM_003079.5(SMARCE1):c.442C>T (p.Arg148Cys) rs147065057
NM_003079.5(SMARCE1):c.446C>T (p.Ala149Val) rs2037142942
NM_003079.5(SMARCE1):c.462G>C (p.Glu154Asp) rs2143996251
NM_003079.5(SMARCE1):c.467A>G (p.Glu156Gly)
NM_003079.5(SMARCE1):c.473G>T (p.Arg158Leu)
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.485C>T (p.Ser162Phe)
NM_003079.5(SMARCE1):c.489C>T (p.Arg163=) rs2143996156
NM_003079.5(SMARCE1):c.499G>A (p.Gly167Arg)
NM_003079.5(SMARCE1):c.503A>T (p.Glu168Val)
NM_003079.5(SMARCE1):c.509A>G (p.Tyr170Cys) rs1555605744
NM_003079.5(SMARCE1):c.511A>G (p.Met171Val) rs2037142335
NM_003079.5(SMARCE1):c.52-3C>T
NM_003079.5(SMARCE1):c.52-5A>G rs2037210067
NM_003079.5(SMARCE1):c.521A>G (p.Gln174Arg) rs2143996031
NM_003079.5(SMARCE1):c.522G>C (p.Gln174His)
NM_003079.5(SMARCE1):c.523C>G (p.Pro175Ala) rs2143996013
NM_003079.5(SMARCE1):c.527C>T (p.Ala176Val) rs2143995982
NM_003079.5(SMARCE1):c.533A>T (p.Asp178Val) rs2143995960
NM_003079.5(SMARCE1):c.536C>T (p.Pro179Leu) rs1160889864
NM_003079.5(SMARCE1):c.539A>T (p.Asp180Val) rs2037142009
NM_003079.5(SMARCE1):c.541+17G>A
NM_003079.5(SMARCE1):c.541+3A>G rs1555605737
NM_003079.5(SMARCE1):c.541+5A>G
NM_003079.5(SMARCE1):c.542-17C>G
NM_003079.5(SMARCE1):c.542-8C>G rs2143988643
NM_003079.5(SMARCE1):c.547G>A (p.Asp183Asn) rs2037103551
NM_003079.5(SMARCE1):c.552T>A (p.Asp184Glu) rs1555605438
NM_003079.5(SMARCE1):c.562A>T (p.Met188Leu)
NM_003079.5(SMARCE1):c.572C>T (p.Thr191Ile)
NM_003079.5(SMARCE1):c.574G>A (p.Ala192Thr) rs2143988542
NM_003079.5(SMARCE1):c.578C>T (p.Thr193Ile) rs1319163552
NM_003079.5(SMARCE1):c.580G>T (p.Ala194Ser)
NM_003079.5(SMARCE1):c.584G>A (p.Arg195His) rs1303849808
NM_003079.5(SMARCE1):c.58C>T (p.Pro20Ser)
NM_003079.5(SMARCE1):c.598C>T (p.His200Tyr) rs2143988460
NM_003079.5(SMARCE1):c.601C>T (p.Arg201Cys) rs1567845807
NM_003079.5(SMARCE1):c.602G>A (p.Arg201His) rs761299232
NM_003079.5(SMARCE1):c.605T>G (p.Leu202Arg)
NM_003079.5(SMARCE1):c.607A>C (p.Ile203Leu)
NM_003079.5(SMARCE1):c.611G>A (p.Ser204Asn)
NM_003079.5(SMARCE1):c.618T>G (p.Ile206Met)
NM_003079.5(SMARCE1):c.61A>G (p.Ser21Gly)
NM_003079.5(SMARCE1):c.622A>C (p.Ser208Arg) rs2143988407
NM_003079.5(SMARCE1):c.627G>C (p.Glu209Asp)
NM_003079.5(SMARCE1):c.631G>T (p.Val211Leu) rs2037102677
NM_003079.5(SMARCE1):c.637C>T (p.Pro213Ser)
NM_003079.5(SMARCE1):c.640G>A (p.Asp214Asn) rs2143988369
NM_003079.5(SMARCE1):c.646C>T (p.Arg216Trp) rs2143988352
NM_003079.5(SMARCE1):c.665C>G (p.Ala222Gly)
NM_003079.5(SMARCE1):c.683A>C (p.Lys228Thr)
NM_003079.5(SMARCE1):c.683A>G (p.Lys228Arg) rs2037102487
NM_003079.5(SMARCE1):c.685C>T (p.Arg229Trp)
NM_003079.5(SMARCE1):c.686G>A (p.Arg229Gln) rs768981981
NM_003079.5(SMARCE1):c.705G>T (p.Met235Ile)
NM_003079.5(SMARCE1):c.706G>A (p.Val236Ile) rs745924628
NM_003079.5(SMARCE1):c.714+6G>A
NM_003079.5(SMARCE1):c.715-3C>G
NM_003079.5(SMARCE1):c.734TTC[1] (p.Leu246del)
NM_003079.5(SMARCE1):c.741A>G (p.Gln247=) rs1356231337
NM_003079.5(SMARCE1):c.742A>T (p.Ile248Leu) rs2037096994
NM_003079.5(SMARCE1):c.743T>C (p.Ile248Thr)
NM_003079.5(SMARCE1):c.750A>C (p.Glu250Asp) rs1555605350
NM_003079.5(SMARCE1):c.752G>A (p.Arg251Gln)
NM_003079.5(SMARCE1):c.760_762del (p.Glu254del)
NM_003079.5(SMARCE1):c.761AGA[2] (p.Lys256del) rs769002311
NM_003079.5(SMARCE1):c.764A>G (p.Lys255Arg) rs2037096715
NM_003079.5(SMARCE1):c.767A>C (p.Lys256Thr) rs542193901
NM_003079.5(SMARCE1):c.771G>C (p.Arg257Ser)
NM_003079.5(SMARCE1):c.783A>T (p.Glu261Asp) rs2143986944
NM_003079.5(SMARCE1):c.788C>G (p.Thr263Arg) rs2037096454
NM_003079.5(SMARCE1):c.790G>A (p.Asp264Asn) rs1555605342
NM_003079.5(SMARCE1):c.791A>G (p.Asp264Gly)
NM_003079.5(SMARCE1):c.794C>T (p.Ser265Leu)
NM_003079.5(SMARCE1):c.796T>C (p.Phe266Leu) rs2143986878
NM_003079.5(SMARCE1):c.8-3C>G
NM_003079.5(SMARCE1):c.802A>C (p.Asn268His) rs963534528
NM_003079.5(SMARCE1):c.802A>G (p.Asn268Asp)
NM_003079.5(SMARCE1):c.803A>G (p.Asn268Ser) rs2037096315
NM_003079.5(SMARCE1):c.811A>G (p.Lys271Glu)
NM_003079.5(SMARCE1):c.815G>A (p.Arg272Lys)
NM_003079.5(SMARCE1):c.816G>T (p.Arg272Ser) rs2037096217
NM_003079.5(SMARCE1):c.821G>A (p.Cys274Tyr) rs1413987767
NM_003079.5(SMARCE1):c.824G>A (p.Gly275Asp) rs1555605260
NM_003079.5(SMARCE1):c.827T>C (p.Leu276Pro)
NM_003079.5(SMARCE1):c.82T>C (p.Tyr28His) rs2144009228
NM_003079.5(SMARCE1):c.832G>A (p.Val278Ile) rs2037087580
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.849G>T (p.Glu283Asp) rs2143985157
NM_003079.5(SMARCE1):c.849del (p.Ile285fs) rs2037087393
NM_003079.5(SMARCE1):c.850A>G (p.Lys284Glu)
NM_003079.5(SMARCE1):c.853A>G (p.Ile285Val) rs2143985147
NM_003079.5(SMARCE1):c.854T>C (p.Ile285Thr) rs1597742548
NM_003079.5(SMARCE1):c.856G>A (p.Ala286Thr) rs751048883
NM_003079.5(SMARCE1):c.860C>T (p.Ala287Val)
NM_003079.5(SMARCE1):c.862G>A (p.Glu288Lys) rs2143985106
NM_003079.5(SMARCE1):c.869C>G (p.Ala290Gly) rs758923998
NM_003079.5(SMARCE1):c.869C>T (p.Ala290Val) rs758923998
NM_003079.5(SMARCE1):c.86A>G (p.Asn29Ser) rs760888905
NM_003079.5(SMARCE1):c.874_877del (p.Ala292fs)
NM_003079.5(SMARCE1):c.875C>T (p.Ala292Val)
NM_003079.5(SMARCE1):c.880G>A (p.Glu294Lys) rs2143985056
NM_003079.5(SMARCE1):c.885G>T (p.Gln295His) rs2037087059
NM_003079.5(SMARCE1):c.887C>G (p.Ala296Gly) rs2037087035
NM_003079.5(SMARCE1):c.887C>T (p.Ala296Val)
NM_003079.5(SMARCE1):c.889C>G (p.Arg297Gly) rs562702157
NM_003079.5(SMARCE1):c.889C>T (p.Arg297Cys) rs562702157
NM_003079.5(SMARCE1):c.890G>A (p.Arg297His) rs1172017371
NM_003079.5(SMARCE1):c.890G>T (p.Arg297Leu)
NM_003079.5(SMARCE1):c.893A>G (p.Lys298Arg) rs956654252
NM_003079.5(SMARCE1):c.896G>C (p.Arg299Thr) rs1555605248
NM_003079.5(SMARCE1):c.896G>T (p.Arg299Met) rs1555605248
NM_003079.5(SMARCE1):c.899A>G (p.Gln300Arg) rs766568737
NM_003079.5(SMARCE1):c.906A>C (p.Glu302Asp) rs760713355
NM_003079.5(SMARCE1):c.909G>C (p.Arg303Ser) rs2037086696
NM_003079.5(SMARCE1):c.913A>G (p.Lys305Glu) rs2143984936
NM_003079.5(SMARCE1):c.913_915del (p.Lys305del) rs770456331
NM_003079.5(SMARCE1):c.914A>G (p.Lys305Arg)
NM_003079.5(SMARCE1):c.916G>A (p.Glu306Lys)
NM_003079.5(SMARCE1):c.919G>A (p.Ala307Thr) rs2037086571
NM_003079.5(SMARCE1):c.920C>T (p.Ala307Val)
NM_003079.5(SMARCE1):c.928C>G (p.Gln310Glu)
NM_003079.5(SMARCE1):c.930_949dup (p.Ser317fs) rs2037085970
NM_003079.5(SMARCE1):c.934G>A (p.Glu312Lys)
NM_003079.5(SMARCE1):c.935A>G (p.Glu312Gly) rs2037086336
NM_003079.5(SMARCE1):c.938G>T (p.Arg313Leu) rs201577008
NM_003079.5(SMARCE1):c.944A>G (p.Gln315Arg) rs1444576393
NM_003079.5(SMARCE1):c.94A>G (p.Ser32Gly) rs1162139233
NM_003079.5(SMARCE1):c.955G>T (p.Val319Phe)
NM_003079.5(SMARCE1):c.958C>G (p.Pro320Ala)
NM_003079.5(SMARCE1):c.95G>A (p.Ser32Asn) rs1597749777
NM_003079.5(SMARCE1):c.962A>T (p.Glu321Val)
NM_003079.5(SMARCE1):c.967G>A (p.Glu323Lys)
NM_003079.5(SMARCE1):c.971A>T (p.Gln324Leu) rs1555605231
NM_003079.5(SMARCE1):c.986_1000dup (p.Lys333_Asp334insGlyGluGluLysLys)
NM_003079.5(SMARCE1):c.988GAG[1] (p.Glu331del)
NM_003079.5(SMARCE1):c.989_990delinsGC (p.Glu330Gly)
NM_003079.5(SMARCE1):c.990_1004del (p.Glu330_Asp334del) rs2143984558
NM_003079.5(SMARCE1):c.992A>G (p.Glu331Gly)
NM_003079.5(SMARCE1):c.993GAA[1] (p.Lys333del)
NM_003079.5(SMARCE1):c.995A>C (p.Lys332Thr) rs766656583
NM_003079.5(SMARCE1):c.995A>G (p.Lys332Arg)
NM_003079.5(SMARCE1):c.998A>G (p.Lys333Arg) rs948161312
NM_016169.4(SUFU):c.103C>T (p.His35Tyr)
NM_016169.4(SUFU):c.137C>G (p.Pro46Arg)
NM_016169.4(SUFU):c.331G>C (p.Asp111His) rs1590018865
NM_016169.4(SUFU):c.56G>T (p.Gly19Val)
NM_016169.4(SUFU):c.58C>G (p.Pro20Ala)
NM_016169.4(SUFU):c.59C>G (p.Pro20Arg)
NM_016169.4(SUFU):c.657C>G (p.Ile219Met)
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.853_861dup (p.Asp285_Asp287dup) rs1363458155
NM_016169.4(SUFU):c.877A>G (p.Ile293Val) rs574002050

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