ClinVar Miner

List of variants in gene SMARCB1 reported as uncertain significance for Hereditary cancer-predisposing syndrome

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Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.987-13C>T rs185572642 0.00008
NM_003073.5(SMARCB1):c.642G>A (p.Thr214=) rs745315386 0.00005
NM_003073.5(SMARCB1):c.628+5A>G rs1298640170 0.00003
NM_003073.5(SMARCB1):c.750G>A (p.Thr250=) rs1049144154 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.64G>A (p.Asp22Asn) rs1417899723 0.00002
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met) rs751957685 0.00002
NM_003073.5(SMARCB1):c.796-4T>G rs1030998446 0.00002
NM_003073.5(SMARCB1):c.-3G>T rs1002770944 0.00001
NM_003073.5(SMARCB1):c.1028C>T (p.Thr343Met) rs773457718 0.00001
NM_003073.5(SMARCB1):c.1115C>T (p.Thr372Met) rs992198711 0.00001
NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His) rs387906812 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.358C>T (p.Leu120Phe) rs754350320 0.00001
NM_003073.5(SMARCB1):c.366A>T (p.Glu122Asp) rs1060503018 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.620A>G (p.Asn207Ser) rs763872301 0.00001
NM_003073.5(SMARCB1):c.628+4C>T rs373375336 0.00001
NM_003073.5(SMARCB1):c.743A>G (p.Tyr248Cys) rs1444281296 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.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
NM_003073.5(SMARCB1):c.-1A>C
NM_003073.5(SMARCB1):c.-4C>T
NM_003073.5(SMARCB1):c.1007T>C (p.Val336Ala)
NM_003073.5(SMARCB1):c.1013T>C (p.Ile338Thr) rs2146041839
NM_003073.5(SMARCB1):c.101A>G (p.Asn34Ser) rs2145959891
NM_003073.5(SMARCB1):c.1021C>T (p.Arg341Trp)
NM_003073.5(SMARCB1):c.1022G>T (p.Arg341Leu)
NM_003073.5(SMARCB1):c.1052C>T (p.Pro351Leu) rs2030790017
NM_003073.5(SMARCB1):c.1061A>G (p.Glu354Gly)
NM_003073.5(SMARCB1):c.1069A>G (p.Thr357Ala)
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg) rs1555881567
NM_003073.5(SMARCB1):c.1075G>A (p.Ala359Thr)
NM_003073.5(SMARCB1):c.1118+3A>G
NM_003073.5(SMARCB1):c.1118+4C>T
NM_003073.5(SMARCB1):c.1129_1134del (p.Arg377_Leu378del)
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.142C>T (p.Pro48Ser)
NM_003073.5(SMARCB1):c.158G>A (p.Arg53Gln)
NM_003073.5(SMARCB1):c.16C>G (p.Leu6Val)
NM_003073.5(SMARCB1):c.185A>C (p.Lys62Thr) rs1928402357
NM_003073.5(SMARCB1):c.20G>T (p.Ser7Ile)
NM_003073.5(SMARCB1):c.220C>T (p.Pro74Ser)
NM_003073.5(SMARCB1):c.221C>T (p.Pro74Leu)
NM_003073.5(SMARCB1):c.232+5G>A rs1555875932
NM_003073.5(SMARCB1):c.233-9_233-6del rs1928536961
NM_003073.5(SMARCB1):c.238G>A (p.Gly80Arg)
NM_003073.5(SMARCB1):c.23A>G (p.Lys8Arg)
NM_003073.5(SMARCB1):c.242A>G (p.Tyr81Cys) rs2145963676
NM_003073.5(SMARCB1):c.245C>T (p.Thr82Met) rs1928538526
NM_003073.5(SMARCB1):c.260G>A (p.Ser87Asn)
NM_003073.5(SMARCB1):c.277G>T (p.Ala93Ser)
NM_003073.5(SMARCB1):c.301G>A (p.Asp101Asn) rs774488493
NM_003073.5(SMARCB1):c.310G>A (p.Asp104Asn)
NM_003073.5(SMARCB1):c.329T>C (p.Val110Ala) rs1601391157
NM_003073.5(SMARCB1):c.332C>G (p.Ser111Cys)
NM_003073.5(SMARCB1):c.336C>T (p.Ile112=) rs2145964352
NM_003073.5(SMARCB1):c.347C>A (p.Pro116His)
NM_003073.5(SMARCB1):c.349C>T (p.Pro117Ser)
NM_003073.5(SMARCB1):c.352A>C (p.Thr118Pro) rs761082514
NM_003073.5(SMARCB1):c.35A>C (p.Gln12Pro)
NM_003073.5(SMARCB1):c.35A>G (p.Gln12Arg)
NM_003073.5(SMARCB1):c.413G>C (p.Ser138Thr) rs1929110548
NM_003073.5(SMARCB1):c.430G>A (p.Ala144Thr)
NM_003073.5(SMARCB1):c.433G>A (p.Val145Met) rs1601401880
NM_003073.5(SMARCB1):c.43G>T (p.Val15Leu)
NM_003073.5(SMARCB1):c.460A>T (p.Asn154Tyr) rs1555877022
NM_003073.5(SMARCB1):c.461A>G (p.Asn154Ser) rs1057523475
NM_003073.5(SMARCB1):c.464G>A (p.Arg155His)
NM_003073.5(SMARCB1):c.466A>G (p.Met156Val) rs540120954
NM_003073.5(SMARCB1):c.468G>A (p.Met156Ile)
NM_003073.5(SMARCB1):c.473G>A (p.Arg158Gln)
NM_003073.5(SMARCB1):c.500+3G>A rs1601402006
NM_003073.5(SMARCB1):c.501C>G (p.Cys167Trp) rs779221331
NM_003073.5(SMARCB1):c.505G>C (p.Asp169His)
NM_003073.5(SMARCB1):c.512A>G (p.His171Arg) rs794727718
NM_003073.5(SMARCB1):c.517C>G (p.Pro173Ala) rs772788649
NM_003073.5(SMARCB1):c.557T>C (p.Leu186Pro) rs1601405018
NM_003073.5(SMARCB1):c.558G>C (p.Leu186=) rs751914353
NM_003073.5(SMARCB1):c.559G>T (p.Val187Phe) rs1568943235
NM_003073.5(SMARCB1):c.567C>G (p.Ile189Met)
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) rs1601405064
NM_003073.5(SMARCB1):c.583A>T (p.Ile195Phe) rs1929290525
NM_003073.5(SMARCB1):c.61G>A (p.Asp21Asn) rs1601382598
NM_003073.5(SMARCB1):c.628+5A>C rs1298640170
NM_003073.5(SMARCB1):c.630G>T (p.Glu210Asp)
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.662T>C (p.Ile221Thr)
NM_003073.5(SMARCB1):c.668G>A (p.Cys223Tyr) rs1470474620
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.689C>T (p.Pro230Leu) rs2146009762
NM_003073.5(SMARCB1):c.68G>A (p.Gly23Asp) rs1601382621
NM_003073.5(SMARCB1):c.700G>C (p.Val234Leu) rs1272912695
NM_003073.5(SMARCB1):c.70G>A (p.Glu24Lys) rs1601382640
NM_003073.5(SMARCB1):c.71A>C (p.Glu24Ala) rs2145952118
NM_003073.5(SMARCB1):c.733A>G (p.Ile245Val)
NM_003073.5(SMARCB1):c.734T>C (p.Ile245Thr) rs1555879350
NM_003073.5(SMARCB1):c.73T>G (p.Phe25Val)
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.759_761del (p.Ile253_Leu254delinsMet) rs1930227319
NM_003073.5(SMARCB1):c.781C>A (p.Arg261Ser)
NM_003073.5(SMARCB1):c.782G>A (p.Arg261His) rs779587990
NM_003073.5(SMARCB1):c.787A>G (p.Ile263Val)
NM_003073.5(SMARCB1):c.795+3A>G rs768344215
NM_003073.5(SMARCB1):c.795+5G>A rs199902957
NM_003073.5(SMARCB1):c.79A>C (p.Met27Leu) rs762676176
NM_003073.5(SMARCB1):c.804C>A (p.Ile268=) rs1448111718
NM_003073.5(SMARCB1):c.815A>G (p.Asn272Ser)
NM_003073.5(SMARCB1):c.849G>A (p.Met283Ile) rs1601433375
NM_003073.5(SMARCB1):c.849_866dup (p.Ser289_Pro290insSerGluLysGluAsnSer)
NM_003073.5(SMARCB1):c.853G>A (p.Glu285Lys)
NM_003073.5(SMARCB1):c.856_858del (p.Lys286del) rs1060503020
NM_003073.5(SMARCB1):c.868C>G (p.Pro290Ala) rs2030322683
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.892T>C (p.Cys298Arg)
NM_003073.5(SMARCB1):c.93+4G>A
NM_003073.5(SMARCB1):c.941G>A (p.Ser314Asn)
NM_003073.5(SMARCB1):c.964C>T (p.His322Tyr)
NM_003073.5(SMARCB1):c.967C>A (p.Gln323Lys) rs1265308124
NM_003073.5(SMARCB1):c.977A>C (p.Tyr326Ser)
NM_003073.5(SMARCB1):c.979G>A (p.Ala327Thr) rs1601433577
NM_003073.5(SMARCB1):c.986+5G>A
NM_003073.5(SMARCB1):c.987-4G>C rs745773662
NM_003073.5(SMARCB1):c.987-4G>T rs745773662
NM_003073.5(SMARCB1):c.988G>A (p.Glu330Lys)

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