ClinVar Miner

List of variants in gene BLM reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) rs184657475
NM_000057.4(BLM):c.1086C>T (p.Asp362=) rs375632163
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr) rs571152089
NM_000057.4(BLM):c.1100G>A (p.Ser367Asn) rs772176483
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009
NM_000057.4(BLM):c.1194C>T (p.Asn398=) rs202103556
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys) rs538728271
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1209G>C (p.Gln403His) rs1555419741
NM_000057.4(BLM):c.1211G>A (p.Arg404Gln) rs776516663
NM_000057.4(BLM):c.124T>C (p.Ser42Pro) rs1291378382
NM_000057.4(BLM):c.1251T>C (p.Asn417=) rs1555419791
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.4(BLM):c.1404T>C (p.Cys468=) rs1236929438
NM_000057.4(BLM):c.1433G>C (p.Gly478Ala) rs759810567
NM_000057.4(BLM):c.1438T>C (p.Ser480Pro) rs1555419877
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.4(BLM):c.1500del (p.Phe500fs) rs1555419889
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys) rs192491153
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.4(BLM):c.1683_1685TGA[6] (p.Asp566dup) rs768095141
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011
NM_000057.4(BLM):c.174T>C (p.Pro58=) rs576862402
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.4(BLM):c.1856_1858del (p.Phe619del) rs1555419996
NM_000057.4(BLM):c.1881T>C (p.Thr627=) rs148678729
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg) rs377563699
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly) rs370293537
NM_000057.4(BLM):c.1964T>C (p.Met655Thr) rs748567176
NM_000057.4(BLM):c.1969A>G (p.Lys657Glu) rs758782238
NM_000057.4(BLM):c.200T>A (p.Val67Asp) rs1555418261
NM_000057.4(BLM):c.2037A>G (p.Ala679=) rs1555420173
NM_000057.4(BLM):c.2115T>C (p.Val705=) rs142787700
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.4(BLM):c.226C>T (p.Pro76Ser) rs768843912
NM_000057.4(BLM):c.2281A>G (p.Lys761Glu) rs1555420599
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.4(BLM):c.2505C>G (p.Pro835=) rs1023396216
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2598A>T (p.Val866=) rs574053990
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn) rs146723808
NM_000057.4(BLM):c.261G>A (p.Lys87=) rs372668612
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808
NM_000057.4(BLM):c.264C>A (p.Asp88Glu) rs757984551
NM_000057.4(BLM):c.2674A>G (p.Ile892Val) rs764587569
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471
NM_000057.4(BLM):c.2721G>A (p.Thr907=) rs1009065257
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr) rs587778102
NM_000057.4(BLM):c.2868G>A (p.Pro956=) rs199861261
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile) rs202196488
NM_000057.4(BLM):c.3061A>G (p.Asn1021Asp) rs374105075
NM_000057.4(BLM):c.3079G>A (p.Val1027Ile) rs1300299815
NM_000057.4(BLM):c.3101C>T (p.Thr1034Met) rs753652339
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3225A>G (p.Arg1075=) rs7171673
NM_000057.4(BLM):c.3348C>T (p.Asp1116=) rs372697241
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu) rs145027663
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675
NM_000057.4(BLM):c.3449T>C (p.Ile1150Thr) rs1378138456
NM_000057.4(BLM):c.3497A>T (p.Gln1166Leu) rs371774802
NM_000057.4(BLM):c.3501G>A (p.Ala1167=) rs752559933
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934
NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile) rs1555424324
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000057.4(BLM):c.3569T>C (p.Met1190Thr) rs1555424373
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725
NM_000057.4(BLM):c.3608C>T (p.Ala1203Val) rs757088548
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) rs151114049
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys) rs28385142
NM_000057.4(BLM):c.3672A>G (p.Glu1224=) rs1555424393
NM_000057.4(BLM):c.3728C>T (p.Thr1243Ile) rs972145772
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.3813G>A (p.Leu1271=) rs376082823
NM_000057.4(BLM):c.3827C>T (p.Ala1276Val) rs760554566
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) rs587779889
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys) rs730880251
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216
NM_000057.4(BLM):c.403G>T (p.Ala135Ser) rs373832397
NM_000057.4(BLM):c.4067A>G (p.Lys1356Arg) rs945181516
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4093A>G (p.Arg1365Gly) rs759982203
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met) rs587779891
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135
NM_000057.4(BLM):c.4186T>C (p.Leu1396=) rs376734461
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000057.4(BLM):c.4240T>C (p.Tyr1414His) rs753800694
NM_000057.4(BLM):c.437A>T (p.Asp146Val) rs902876126
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681
NM_000057.4(BLM):c.542G>T (p.Ser181Ile) rs587779893
NM_000057.4(BLM):c.543C>T (p.Ser181=) rs761288442
NM_000057.4(BLM):c.545C>T (p.Thr182Ile) rs749838731
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082
NM_000057.4(BLM):c.645C>T (p.Ser215=) rs56218710
NM_000057.4(BLM):c.699C>T (p.Ser233=) rs200125311
NM_000057.4(BLM):c.700G>A (p.Asp234Asn) rs878853555
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519
NM_000057.4(BLM):c.759G>A (p.Gln253=) rs34580216
NM_000057.4(BLM):c.780T>C (p.Thr260=) rs55763079
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000057.4(BLM):c.808G>A (p.Glu270Lys) rs762053925
NM_000057.4(BLM):c.813_815GAA[2] (p.Lys273del) rs587779895
NM_000057.4(BLM):c.816G>A (p.Lys272=) rs139295905
NM_000057.4(BLM):c.842A>C (p.His281Pro) rs202042636
NM_000057.4(BLM):c.847A>G (p.Thr283Ala) rs149598003
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991
NM_000057.4(BLM):c.931G>T (p.Ala311Ser) rs753911420
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061
NM_000057.4(BLM):c.98C>T (p.Ser33Leu) rs139282091

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