ClinVar Miner

List of variants in gene SMARCB1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 338
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) rs138184483 0.00115
NM_003073.5(SMARCB1):c.500+24C>G rs199737164 0.00086
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=) rs757546528 0.00006
NM_003073.5(SMARCB1):c.987-4G>A rs745773662 0.00006
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=) rs149451748 0.00004
NM_003073.5(SMARCB1):c.712G>A (p.Ala238Thr) rs765514964 0.00003
NM_003073.5(SMARCB1):c.755G>A (p.Ser252Asn) rs372924301 0.00003
NM_003073.5(SMARCB1):c.1142C>T (p.Thr381Met) rs1387467529 0.00002
NM_003073.5(SMARCB1):c.374C>G (p.Ala125Gly) rs1029942798 0.00002
NM_003073.5(SMARCB1):c.500+10C>T rs773391973 0.00002
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010 0.00002
NM_003073.5(SMARCB1):c.64G>A (p.Asp22Asn) rs1417899723 0.00002
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met) rs751957685 0.00002
NM_003073.5(SMARCB1):c.1022G>A (p.Arg341Gln) rs748441485 0.00001
NM_003073.5(SMARCB1):c.1028C>T (p.Thr343Met) rs773457718 0.00001
NM_003073.5(SMARCB1):c.1033G>A (p.Asp345Asn) rs794727911 0.00001
NM_003073.5(SMARCB1):c.1115C>T (p.Thr372Met) rs992198711 0.00001
NM_003073.5(SMARCB1):c.11T>C (p.Met4Thr) rs371477865 0.00001
NM_003073.5(SMARCB1):c.166A>T (p.Thr56Ser) rs1568936098 0.00001
NM_003073.5(SMARCB1):c.281C>T (p.Ser94Leu) rs1223772419 0.00001
NM_003073.5(SMARCB1):c.340A>C (p.Thr114Pro) rs750822703 0.00001
NM_003073.5(SMARCB1):c.358C>T (p.Leu120Phe) rs754350320 0.00001
NM_003073.5(SMARCB1):c.362+8G>A rs727504162 0.00001
NM_003073.5(SMARCB1):c.366A>T (p.Glu122Asp) rs1060503018 0.00001
NM_003073.5(SMARCB1):c.463C>T (p.Arg155Cys) rs1458920579 0.00001
NM_003073.5(SMARCB1):c.500+6G>C rs772329556 0.00001
NM_003073.5(SMARCB1):c.520G>T (p.Ala174Ser) rs746433763 0.00001
NM_003073.5(SMARCB1):c.550G>A (p.Glu184Lys) rs776374083 0.00001
NM_003073.5(SMARCB1):c.553G>A (p.Val185Met) rs1251083217 0.00001
NM_003073.5(SMARCB1):c.620A>G (p.Asn207Ser) rs763872301 0.00001
NM_003073.5(SMARCB1):c.695C>T (p.Thr232Met) rs776693680 0.00001
NM_003073.5(SMARCB1):c.743A>G (p.Tyr248Cys) rs1444281296 0.00001
NM_003073.5(SMARCB1):c.767A>G (p.Asp256Gly) rs749976156 0.00001
NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys) rs1368176286 0.00001
NM_003073.5(SMARCB1):c.790A>G (p.Ile264Val) rs887245809 0.00001
NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn) rs769322487 0.00001
NM_003073.5(SMARCB1):c.896C>T (p.Ser299Leu) rs1362758319 0.00001
NM_003073.5(SMARCB1):c.934G>A (p.Ala312Thr) rs749348930 0.00001
NM_003073.5(SMARCB1):c.946C>T (p.Arg316Trp) rs769023941 0.00001
NM_003073.5(SMARCB1):c.947G>A (p.Arg316Gln) rs2030327999 0.00001
NM_003073.5(SMARCB1):c.986+3A>G rs1601433601 0.00001
NC_000022.10:g.(?_24129347)_(24176377_?)dup
NC_000022.10:g.(?_24129357)_(24130008_?)dup
NC_000022.10:g.(?_24129357)_(24145619_?)dup
NC_000022.10:g.(?_24129357)_(24167612_?)dup
NC_000022.10:g.(?_24129361)_24282899dup
NC_000022.10:g.(?_24130008)_(24176449_?)dup
NC_000022.10:g.(?_24133933)_(24176367_?)dup
NC_000022.10:g.(?_24133933)_(24176377_?)dup
NC_000022.10:g.(?_24143121)_(24176377_?)dup
NC_000022.10:g.(?_24143121)_(24176449_?)dup
NC_000022.10:g.(?_24175749)_(24176377_?)dup
NC_000022.10:g.(?_24175753)_(24176372_?)dup
NC_000022.11:g.(?_23787160)_(23803432_?)dup
NC_000022.11:g.(?_23787160)_(23825425_?)dup
NC_000022.11:g.(?_23787170)_(23834262_?)dup
NC_000022.11:g.(?_23816760)_(23834262_?)dup
NM_003073.5(SMARCB1):c.*6C>T
NM_003073.5(SMARCB1):c.*75_*86del
NM_003073.5(SMARCB1):c.*82C>G rs878854600
NM_003073.5(SMARCB1):c.-1_2del (p.Met4del)
NM_003073.5(SMARCB1):c.-4C>T
NM_003073.5(SMARCB1):c.1011G>T (p.Glu337Asp)
NM_003073.5(SMARCB1):c.1012A>C (p.Ile338Leu) rs2146041824
NM_003073.5(SMARCB1):c.1012A>G (p.Ile338Val)
NM_003073.5(SMARCB1):c.1013T>C (p.Ile338Thr) rs2146041839
NM_003073.5(SMARCB1):c.1018A>G (p.Ile340Val)
NM_003073.5(SMARCB1):c.101A>G (p.Asn34Ser) rs2145959891
NM_003073.5(SMARCB1):c.1020C>G (p.Ile340Met)
NM_003073.5(SMARCB1):c.1021C>T (p.Arg341Trp)
NM_003073.5(SMARCB1):c.1025A>G (p.Asn342Ser) rs2146041993
NM_003073.5(SMARCB1):c.1033G>T (p.Asp345Tyr) rs794727911
NM_003073.5(SMARCB1):c.1037C>T (p.Ala346Val) rs1231539032
NM_003073.5(SMARCB1):c.103_105del (p.Tyr35del)
NM_003073.5(SMARCB1):c.1042C>G (p.Gln348Glu)
NM_003073.5(SMARCB1):c.1052C>T (p.Pro351Leu) rs2030790017
NM_003073.5(SMARCB1):c.106C>T (p.Leu36Phe) rs2145959920
NM_003073.5(SMARCB1):c.1091A>T (p.Lys364Met) rs2030793132
NM_003073.5(SMARCB1):c.1092G>T (p.Lys364Asn)
NM_003073.5(SMARCB1):c.1097G>A (p.Arg366His) rs1555881572
NM_003073.5(SMARCB1):c.1099G>C (p.Asp367His) rs2030794083
NM_003073.5(SMARCB1):c.10A>T (p.Met4Leu)
NM_003073.5(SMARCB1):c.1118+4C>A rs374197835
NM_003073.5(SMARCB1):c.1119-12C>G rs1295969050
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp) rs1568963596
NM_003073.5(SMARCB1):c.1132C>T (p.Leu378Phe) rs2030838981
NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg) rs1387467529
NM_003073.5(SMARCB1):c.1145C>T (p.Ala382Val) rs756129754
NM_003073.5(SMARCB1):c.1148C>T (p.Pro383Leu)
NM_003073.5(SMARCB1):c.1155G>C (p.Trp385Cys) rs2030841425
NM_003073.5(SMARCB1):c.1155G>T (p.Trp385Cys) rs2030841425
NM_003073.5(SMARCB1):c.119G>A (p.Arg40Gln) rs1928397102
NM_003073.5(SMARCB1):c.128T>G (p.Leu43Arg) rs1928397303
NM_003073.5(SMARCB1):c.13G>C (p.Ala5Pro) rs1928040877
NM_003073.5(SMARCB1):c.13G>T (p.Ala5Ser)
NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu) rs387906811
NM_003073.5(SMARCB1):c.146C>T (p.Ser49Leu)
NM_003073.5(SMARCB1):c.148C>G (p.Leu50Val)
NM_003073.5(SMARCB1):c.14C>T (p.Ala5Val) rs1568933235
NM_003073.5(SMARCB1):c.153G>C (p.Trp51Cys) rs2145960213
NM_003073.5(SMARCB1):c.158G>A (p.Arg53Gln)
NM_003073.5(SMARCB1):c.169G>A (p.Val57Met) rs922052006
NM_003073.5(SMARCB1):c.170T>C (p.Val57Ala)
NM_003073.5(SMARCB1):c.185A>T (p.Lys62Ile) rs1928402357
NM_003073.5(SMARCB1):c.193G>T (p.Ala65Ser) rs1555875920
NM_003073.5(SMARCB1):c.196T>G (p.Ser66Ala) rs1601388691
NM_003073.5(SMARCB1):c.197C>T (p.Ser66Leu)
NM_003073.5(SMARCB1):c.1A>C (p.Met1Leu)
NM_003073.5(SMARCB1):c.1ATG[3] (p.Met4del) rs769579890
NM_003073.5(SMARCB1):c.202C>T (p.His68Tyr)
NM_003073.5(SMARCB1):c.203A>T (p.His68Leu) rs1928403840
NM_003073.5(SMARCB1):c.205G>A (p.Gly69Ser) rs2145960551
NM_003073.5(SMARCB1):c.20G>A (p.Ser7Asn) rs1928042033
NM_003073.5(SMARCB1):c.210A>G (p.Lys70=)
NM_003073.5(SMARCB1):c.213A>C (p.Lys71Asn)
NM_003073.5(SMARCB1):c.223A>G (p.Asn75Asp) rs2145960610
NM_003073.5(SMARCB1):c.226A>G (p.Thr76Ala) rs2145960619
NM_003073.5(SMARCB1):c.227C>G (p.Thr76Ser) rs2145960632
NM_003073.5(SMARCB1):c.22A>G (p.Lys8Glu) rs2145951968
NM_003073.5(SMARCB1):c.232+4C>T
NM_003073.5(SMARCB1):c.232+5G>A rs1555875932
NM_003073.5(SMARCB1):c.232G>A (p.Asp78Asn)
NM_003073.5(SMARCB1):c.233-5del rs1928537133
NM_003073.5(SMARCB1):c.233A>G (p.Asp78Gly)
NM_003073.5(SMARCB1):c.238G>A (p.Gly80Arg)
NM_003073.5(SMARCB1):c.242A>G (p.Tyr81Cys) rs2145963676
NM_003073.5(SMARCB1):c.244A>C (p.Thr82Pro) rs1053189632
NM_003073.5(SMARCB1):c.244A>G (p.Thr82Ala) rs1053189632
NM_003073.5(SMARCB1):c.245C>T (p.Thr82Met) rs1928538526
NM_003073.5(SMARCB1):c.257C>A (p.Thr86Asn) rs747794500
NM_003073.5(SMARCB1):c.260G>A (p.Ser87Asn)
NM_003073.5(SMARCB1):c.262G>T (p.Val88Leu) rs1601391025
NM_003073.5(SMARCB1):c.277G>A (p.Ala93Thr) rs2145963919
NM_003073.5(SMARCB1):c.278C>T (p.Ala93Val) rs2145963921
NM_003073.5(SMARCB1):c.283G>A (p.Glu95Lys) rs2145963960
NM_003073.5(SMARCB1):c.284A>G (p.Glu95Gly) rs1568937129
NM_003073.5(SMARCB1):c.286G>A (p.Val96Met)
NM_003073.5(SMARCB1):c.301G>A (p.Asp101Asn) rs774488493
NM_003073.5(SMARCB1):c.301G>C (p.Asp101His) rs774488493
NM_003073.5(SMARCB1):c.301G>T (p.Asp101Tyr) rs774488493
NM_003073.5(SMARCB1):c.302A>G (p.Asp101Gly) rs762188226
NM_003073.5(SMARCB1):c.307A>C (p.Asn103His) rs2145964114
NM_003073.5(SMARCB1):c.308A>G (p.Asn103Ser) rs1928543301
NM_003073.5(SMARCB1):c.311A>C (p.Asp104Ala) rs2145964151
NM_003073.5(SMARCB1):c.314A>G (p.Glu105Gly) rs2145964182
NM_003073.5(SMARCB1):c.323A>G (p.Lys108Arg)
NM_003073.5(SMARCB1):c.329T>C (p.Val110Ala) rs1601391157
NM_003073.5(SMARCB1):c.332C>G (p.Ser111Cys)
NM_003073.5(SMARCB1):c.334A>G (p.Ile112Val) rs1928546194
NM_003073.5(SMARCB1):c.340A>G (p.Thr114Ala) rs750822703
NM_003073.5(SMARCB1):c.346C>A (p.Pro116Thr) rs1928547553
NM_003073.5(SMARCB1):c.347C>A (p.Pro116His)
NM_003073.5(SMARCB1):c.347C>T (p.Pro116Leu)
NM_003073.5(SMARCB1):c.352A>C (p.Thr118Pro) rs761082514
NM_003073.5(SMARCB1):c.35A>G (p.Gln12Arg)
NM_003073.5(SMARCB1):c.362+6G>A
NM_003073.5(SMARCB1):c.363-6C>G
NM_003073.5(SMARCB1):c.374C>T (p.Ala125Val)
NM_003073.5(SMARCB1):c.377A>G (p.Lys126Arg)
NM_003073.5(SMARCB1):c.386G>C (p.Ser129Thr)
NM_003073.5(SMARCB1):c.400A>C (p.Thr134Pro)
NM_003073.5(SMARCB1):c.403C>G (p.Leu135Val)
NM_003073.5(SMARCB1):c.413G>C (p.Ser138Thr) rs1929110548
NM_003073.5(SMARCB1):c.415T>C (p.Ser139Pro)
NM_003073.5(SMARCB1):c.434T>G (p.Val145Gly) rs1601401889
NM_003073.5(SMARCB1):c.43G>A (p.Val15Met)
NM_003073.5(SMARCB1):c.440G>A (p.Cys147Tyr)
NM_003073.5(SMARCB1):c.448A>G (p.Thr150Ala) rs745619005
NM_003073.5(SMARCB1):c.44T>C (p.Val15Ala) rs1928044034
NM_003073.5(SMARCB1):c.461A>G (p.Asn154Ser) rs1057523475
NM_003073.5(SMARCB1):c.466A>G (p.Met156Val) rs540120954
NM_003073.5(SMARCB1):c.467T>C (p.Met156Thr)
NM_003073.5(SMARCB1):c.469G>T (p.Gly157Cys) rs1568941668
NM_003073.5(SMARCB1):c.473G>A (p.Arg158Gln)
NM_003073.5(SMARCB1):c.473G>T (p.Arg158Leu) rs1232172026
NM_003073.5(SMARCB1):c.488C>G (p.Thr163Ser) rs2145978836
NM_003073.5(SMARCB1):c.492C>A (p.Phe164Leu) rs780005225
NM_003073.5(SMARCB1):c.4A>G (p.Met2Val) rs2145951889
NM_003073.5(SMARCB1):c.500+2T>C
NM_003073.5(SMARCB1):c.500+3G>A rs1601402006
NM_003073.5(SMARCB1):c.500+7A>G
NM_003073.5(SMARCB1):c.501C>G (p.Cys167Trp) rs779221331
NM_003073.5(SMARCB1):c.502T>C (p.Phe168Leu)
NM_003073.5(SMARCB1):c.505G>C (p.Asp169His)
NM_003073.5(SMARCB1):c.508G>A (p.Asp170Asn) rs1568943134
NM_003073.5(SMARCB1):c.509A>G (p.Asp170Gly)
NM_003073.5(SMARCB1):c.512A>G (p.His171Arg) rs794727718
NM_003073.5(SMARCB1):c.515A>T (p.Asp172Val) rs2145982695
NM_003073.5(SMARCB1):c.517C>G (p.Pro173Ala) rs772788649
NM_003073.5(SMARCB1):c.517C>T (p.Pro173Ser)
NM_003073.5(SMARCB1):c.526A>C (p.Ile176Leu) rs1929285188
NM_003073.5(SMARCB1):c.526A>G (p.Ile176Val)
NM_003073.5(SMARCB1):c.537C>A (p.Asn179Lys)
NM_003073.5(SMARCB1):c.538G>A (p.Ala180Thr) rs1568943183
NM_003073.5(SMARCB1):c.538G>T (p.Ala180Ser)
NM_003073.5(SMARCB1):c.539C>T (p.Ala180Val) rs1555877280
NM_003073.5(SMARCB1):c.546G>T (p.Gln182His) rs1929287151
NM_003073.5(SMARCB1):c.547C>T (p.Pro183Ser)
NM_003073.5(SMARCB1):c.54G>C (p.Gln18His) rs1220062951
NM_003073.5(SMARCB1):c.552G>T (p.Glu184Asp) rs2145982835
NM_003073.5(SMARCB1):c.557T>C (p.Leu186Pro) rs1601405018
NM_003073.5(SMARCB1):c.559G>T (p.Val187Phe) rs1568943235
NM_003073.5(SMARCB1):c.562C>T (p.Pro188Ser) rs146210466
NM_003073.5(SMARCB1):c.565A>G (p.Ile189Val) rs1601405054
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) rs1601405064
NM_003073.5(SMARCB1):c.578T>C (p.Met193Thr)
NM_003073.5(SMARCB1):c.579G>A (p.Met193Ile) rs1929290030
NM_003073.5(SMARCB1):c.57_74del (p.Glu20_Phe25del) rs2145952071
NM_003073.5(SMARCB1):c.582G>C (p.Glu194Asp) rs759241720
NM_003073.5(SMARCB1):c.583A>T (p.Ile195Phe) rs1929290525
NM_003073.5(SMARCB1):c.585C>G (p.Ile195Met) rs757546528
NM_003073.5(SMARCB1):c.586_587delinsAT (p.Asp196Ile)
NM_003073.5(SMARCB1):c.599T>G (p.Leu200Arg)
NM_003073.5(SMARCB1):c.59A>C (p.Glu20Ala) rs2145952083
NM_003073.5(SMARCB1):c.5T>G (p.Met2Arg)
NM_003073.5(SMARCB1):c.613A>T (p.Thr205Ser) rs1555877290
NM_003073.5(SMARCB1):c.614C>T (p.Thr205Ile) rs2145983068
NM_003073.5(SMARCB1):c.616T>C (p.Trp206Arg)
NM_003073.5(SMARCB1):c.61G>A (p.Asp21Asn) rs1601382598
NM_003073.5(SMARCB1):c.622A>G (p.Met208Val) rs1457130071
NM_003073.5(SMARCB1):c.627T>A (p.Asn209Lys)
NM_003073.5(SMARCB1):c.628+5A>C rs1298640170
NM_003073.5(SMARCB1):c.629-10C>T
NM_003073.5(SMARCB1):c.62A>G (p.Asp21Gly) rs2145952092
NM_003073.5(SMARCB1):c.630G>T (p.Glu210Asp)
NM_003073.5(SMARCB1):c.634T>G (p.Leu212Val)
NM_003073.5(SMARCB1):c.637A>T (p.Met213Leu) rs1930218815
NM_003073.5(SMARCB1):c.641C>G (p.Thr214Arg) rs780906523
NM_003073.5(SMARCB1):c.641C>T (p.Thr214Met) rs780906523
NM_003073.5(SMARCB1):c.652T>C (p.Phe218Leu)
NM_003073.5(SMARCB1):c.652T>G (p.Phe218Val)
NM_003073.5(SMARCB1):c.664C>G (p.Leu222Val)
NM_003073.5(SMARCB1):c.665T>C (p.Leu222Pro)
NM_003073.5(SMARCB1):c.668G>A (p.Cys223Tyr) rs1470474620
NM_003073.5(SMARCB1):c.673G>A (p.Asp225Asn) rs768379745
NM_003073.5(SMARCB1):c.673G>T (p.Asp225Tyr) rs768379745
NM_003073.5(SMARCB1):c.67G>A (p.Gly23Ser) rs1287987691
NM_003073.5(SMARCB1):c.682T>A (p.Leu228Met)
NM_003073.5(SMARCB1):c.689C>A (p.Pro230Gln)
NM_003073.5(SMARCB1):c.689C>T (p.Pro230Leu) rs2146009762
NM_003073.5(SMARCB1):c.68G>A (p.Gly23Asp) rs1601382621
NM_003073.5(SMARCB1):c.698T>A (p.Phe233Tyr)
NM_003073.5(SMARCB1):c.6G>A (p.Met2Ile)
NM_003073.5(SMARCB1):c.700G>C (p.Val234Leu) rs1272912695
NM_003073.5(SMARCB1):c.700G>T (p.Val234Leu)
NM_003073.5(SMARCB1):c.702G>T (p.Val234=)
NM_003073.5(SMARCB1):c.706G>C (p.Ala236Pro) rs1930223455
NM_003073.5(SMARCB1):c.70G>A (p.Glu24Lys) rs1601382640
NM_003073.5(SMARCB1):c.710T>G (p.Ile237Ser) rs2146009925
NM_003073.5(SMARCB1):c.713C>T (p.Ala238Val) rs1060503019
NM_003073.5(SMARCB1):c.71A>C (p.Glu24Ala) rs2145952118
NM_003073.5(SMARCB1):c.721A>G (p.Ile241Val)
NM_003073.5(SMARCB1):c.731A>T (p.Gln244Leu) rs763202805
NM_003073.5(SMARCB1):c.736G>A (p.Glu246Lys) rs1930225458
NM_003073.5(SMARCB1):c.745C>T (p.Pro249Ser) rs1930226221
NM_003073.5(SMARCB1):c.748A>G (p.Thr250Ala)
NM_003073.5(SMARCB1):c.74T>C (p.Phe25Ser) rs2145952130
NM_003073.5(SMARCB1):c.754A>G (p.Ser252Gly)
NM_003073.5(SMARCB1):c.758T>C (p.Ile253Thr) rs2146010326
NM_003073.5(SMARCB1):c.759C>G (p.Ile253Met) rs889171672
NM_003073.5(SMARCB1):c.759_761del (p.Ile253_Leu254delinsMet) rs1930227319
NM_003073.5(SMARCB1):c.765G>C (p.Glu255Asp)
NM_003073.5(SMARCB1):c.769C>A (p.Gln257Lys)
NM_003073.5(SMARCB1):c.771G>C (p.Gln257His)
NM_003073.5(SMARCB1):c.782G>A (p.Arg261His) rs779587990
NM_003073.5(SMARCB1):c.784G>A (p.Val262Ile)
NM_003073.5(SMARCB1):c.787A>G (p.Ile263Val)
NM_003073.5(SMARCB1):c.790A>C (p.Ile264Leu) rs887245809
NM_003073.5(SMARCB1):c.790A>T (p.Ile264Phe) rs887245809
NM_003073.5(SMARCB1):c.795+3A>G rs768344215
NM_003073.5(SMARCB1):c.795+4G>A rs2146010650
NM_003073.5(SMARCB1):c.795+5G>A rs199902957
NM_003073.5(SMARCB1):c.795+5del rs2146010662
NM_003073.5(SMARCB1):c.79A>C (p.Met27Leu) rs762676176
NM_003073.5(SMARCB1):c.79A>G (p.Met27Val) rs762676176
NM_003073.5(SMARCB1):c.80T>G (p.Met27Arg) rs763994045
NM_003073.5(SMARCB1):c.810G>A (p.Val270=) rs1601433312
NM_003073.5(SMARCB1):c.820T>G (p.Ser274Ala)
NM_003073.5(SMARCB1):c.825G>A (p.Leu275=) rs2146026700
NM_003073.5(SMARCB1):c.826G>A (p.Val276Met) rs2030319219
NM_003073.5(SMARCB1):c.827T>C (p.Val276Ala) rs2030319413
NM_003073.5(SMARCB1):c.828G>A (p.Val276=) rs1568957579
NM_003073.5(SMARCB1):c.829G>A (p.Asp277Asn) rs2030319772
NM_003073.5(SMARCB1):c.82A>G (p.Ile28Val)
NM_003073.5(SMARCB1):c.831C>G (p.Asp277Glu) rs1601433351
NM_003073.5(SMARCB1):c.836T>G (p.Phe279Cys) rs2030320193
NM_003073.5(SMARCB1):c.83_84delinsAA (p.Ile28Lys) rs2145952163
NM_003073.5(SMARCB1):c.845A>G (p.Asp282Gly) rs2030320561
NM_003073.5(SMARCB1):c.847A>T (p.Met283Leu)
NM_003073.5(SMARCB1):c.849_866dup (p.Ser289_Pro290insSerGluLysGluAsnSer)
NM_003073.5(SMARCB1):c.850T>G (p.Ser284Ala) rs2146026778
NM_003073.5(SMARCB1):c.856_858del (p.Lys286del) rs1060503020
NM_003073.5(SMARCB1):c.857A>G (p.Lys286Arg) rs2146026825
NM_003073.5(SMARCB1):c.859_861del (p.Glu287del) rs2146026831
NM_003073.5(SMARCB1):c.85G>A (p.Gly29Ser) rs774011967
NM_003073.5(SMARCB1):c.85G>C (p.Gly29Arg) rs774011967
NM_003073.5(SMARCB1):c.866C>T (p.Ser289Leu) rs2030322042
NM_003073.5(SMARCB1):c.868C>G (p.Pro290Ala) rs2030322683
NM_003073.5(SMARCB1):c.868_870del (p.Pro290del) rs2030322230
NM_003073.5(SMARCB1):c.880G>A (p.Ala294Thr) rs1555880578
NM_003073.5(SMARCB1):c.881C>T (p.Ala294Val) rs1555880581
NM_003073.5(SMARCB1):c.883C>G (p.Leu295Val)
NM_003073.5(SMARCB1):c.894C>G (p.Cys298Trp) rs2030323849
NM_003073.5(SMARCB1):c.8T>A (p.Met3Lys)
NM_003073.5(SMARCB1):c.90C>T (p.Ser30=) rs761868468
NM_003073.5(SMARCB1):c.914G>A (p.Gly305Glu)
NM_003073.5(SMARCB1):c.92A>G (p.Glu31Gly)
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val) rs267607072
NM_003073.5(SMARCB1):c.93+12C>T
NM_003073.5(SMARCB1):c.93+4G>A
NM_003073.5(SMARCB1):c.93+5C>A
NM_003073.5(SMARCB1):c.93+6C>T rs1928049977
NM_003073.5(SMARCB1):c.933C>G (p.Ile311Met)
NM_003073.5(SMARCB1):c.934_981del (p.Ala312_Ala327del) rs1601433521
NM_003073.5(SMARCB1):c.935C>T (p.Ala312Val) rs2030327085
NM_003073.5(SMARCB1):c.93G>A (p.Glu31=)
NM_003073.5(SMARCB1):c.94-14T>G
NM_003073.5(SMARCB1):c.94-3T>C
NM_003073.5(SMARCB1):c.943A>T (p.Ile315Phe) rs2146027104
NM_003073.5(SMARCB1):c.946C>G (p.Arg316Gly)
NM_003073.5(SMARCB1):c.953A>G (p.Gln318Arg)
NM_003073.5(SMARCB1):c.961T>A (p.Trp321Arg) rs2146027158
NM_003073.5(SMARCB1):c.967C>A (p.Gln323Lys) rs1265308124
NM_003073.5(SMARCB1):c.969G>C (p.Gln323His)
NM_003073.5(SMARCB1):c.975C>G (p.Thr325=) rs774763517
NM_003073.5(SMARCB1):c.979G>A (p.Ala327Thr) rs1601433577
NM_003073.5(SMARCB1):c.985A>G (p.Ser329Gly) rs1568957782
NM_003073.5(SMARCB1):c.986+13A>G
NM_003073.5(SMARCB1):c.986+5G>A
NM_003073.5(SMARCB1):c.986+5G>C
NM_003073.5(SMARCB1):c.986+5G>T rs1555880607
NM_003073.5(SMARCB1):c.986G>A (p.Ser329Asn)
NM_003073.5(SMARCB1):c.987-12C>G
NM_003073.5(SMARCB1):c.987C>A (p.Ser329Arg) rs137942040
NM_003073.5(SMARCB1):c.988G>A (p.Glu330Lys)
NM_003073.5(SMARCB1):c.995C>G (p.Pro332Arg) rs2146041698
NM_003073.5(SMARCB1):c.995C>T (p.Pro332Leu) rs2146041698
NM_003073.5(SMARCB1):c.9_10delinsTT (p.Met3_Met4delinsIleLeu)

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