ClinVar Miner

List of variants in gene BLM studied for not provided

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Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP
GRCh37/hg19 15q26.1(chr15:91243790-91403844)x1
NM_000057.4(BLM):c.1011A>T (p.Thr337=) rs773511833
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.1108C>T (p.Gln370Ter)
NM_000057.4(BLM):c.1188T>C (p.Cys396=) rs756454608
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1209G>A (p.Gln403=) rs1555419741
NM_000057.4(BLM):c.1221-6C>T rs1555419778
NM_000057.4(BLM):c.1261G>A (p.Ala421Thr) rs587779879
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.4(BLM):c.1348A>G (p.Met450Val) rs200385935
NM_000057.4(BLM):c.1362T>C (p.Asn454=) rs1156488243
NM_000057.4(BLM):c.1419C>G (p.Thr473=) rs200051680
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041
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.1917G>A (p.Leu639=) rs771059822
NM_000057.4(BLM):c.191A>C (p.Asp64Ala) rs140382474
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.1992C>T (p.Gly664=) rs886043359
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.205G>T (p.Glu69Ter) rs746195311
NM_000057.4(BLM):c.2074+5G>A rs587779880
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028
NM_000057.4(BLM):c.2103C>T (p.Leu701=) rs1596234139
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2155C>T (p.Leu719Phe) rs587779881
NM_000057.4(BLM):c.2169A>G (p.Gln723=) rs781635047
NM_000057.4(BLM):c.2202T>C (p.Ala734=) rs1596235728
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.2280A>C (p.Ile760=) rs1596236007
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336
NM_000057.4(BLM):c.2308-2A>G rs1248548542
NM_000057.4(BLM):c.2308-6G>A rs1219227761
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.4(BLM):c.234C>T (p.Pro78=) rs970793829
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2433C>T (p.Tyr811=) rs377542595
NM_000057.4(BLM):c.2452_2454delinsGGG (p.Arg818Gly) rs587779882
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.4(BLM):c.2475G>C (p.Pro825=) rs147587050
NM_000057.4(BLM):c.249G>A (p.Gln83=) rs1430623511
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.2552A>G (p.Gln851Arg) rs1454270314
NM_000057.4(BLM):c.2555+7_2555+8inv
NM_000057.4(BLM):c.2598A>G (p.Val866=) rs574053990
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.2611C>T (p.Pro871Ser) rs1596250378
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.2652G>A (p.Lys884=) rs1596250475
NM_000057.4(BLM):c.2655C>T (p.His885=) rs1404506326
NM_000057.4(BLM):c.2662+8C>G rs1330037075
NM_000057.4(BLM):c.2683T>G (p.Cys895Gly) rs587779883
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471
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.2919C>T (p.Tyr973=) rs181161119
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.3020-7C>G rs1596259789
NM_000057.4(BLM):c.3042T>C (p.His1014=) rs1060503986
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile) rs202196488
NM_000057.4(BLM):c.3117A>G (p.Ile1039Met) rs576199850
NM_000057.4(BLM):c.3135T>C (p.Phe1045=) rs1596260013
NM_000057.4(BLM):c.3141A>G (p.Glu1047=) rs1596260028
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr) rs587779885
NM_000057.4(BLM):c.3210+2del rs587779886
NM_000057.4(BLM):c.3211G>T (p.Asp1071Tyr) rs794727180
NM_000057.4(BLM):c.322T>C (p.Leu108=) rs1596218180
NM_000057.4(BLM):c.3237C>T (p.Asp1079=) rs148237075
NM_000057.4(BLM):c.3239A>T (p.Asp1080Val) rs775383361
NM_000057.4(BLM):c.3253G>T (p.Val1085Leu) rs761235042
NM_000057.4(BLM):c.3345C>T (p.Val1115=) rs773893026
NM_000057.4(BLM):c.3359-9T>C rs1060503988
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu) rs145027663
NM_000057.4(BLM):c.3426C>G (p.Ala1142=) rs147148171
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675
NM_000057.4(BLM):c.3445del (p.Lys1148_Leu1149insTer) rs1555424298
NM_000057.4(BLM):c.3468T>C (p.Asp1156=) rs1325465971
NM_000057.4(BLM):c.348G>A (p.Lys116=) rs749535664
NM_000057.4(BLM):c.3513G>A (p.Val1171=) rs780615126
NM_000057.4(BLM):c.3546T>C (p.Asn1182=) rs1596267753
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.3651A>T (p.Lys1217Asn) rs587779887
NM_000057.4(BLM):c.3666T>A (p.Leu1222=) rs1301144106
NM_000057.4(BLM):c.368A>G (p.Gln123Arg) rs371223446
NM_000057.4(BLM):c.3744G>A (p.Lys1248=) rs1596268347
NM_000057.4(BLM):c.3751+10C>G rs199685140
NM_000057.4(BLM):c.3751+9A>C rs774368488
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888
NM_000057.4(BLM):c.3759A>G (p.Leu1253=) rs1596271761
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.3827C>T (p.Ala1276Val) rs760554566
NM_000057.4(BLM):c.3840A>G (p.Ser1280=) rs759221501
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.4(BLM):c.3861A>G (p.Glu1287=) rs977539638
NM_000057.4(BLM):c.3867A>G (p.Thr1289=) rs759000443
NM_000057.4(BLM):c.3875-2A>G rs150421256
NM_000057.4(BLM):c.3876T>C (p.Ala1292=) rs1596273405
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.4(BLM):c.387_389del (p.Lys130del) rs587778105
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) rs587779889
NM_000057.4(BLM):c.3894G>C (p.Gly1298=) rs1596273453
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754
NM_000057.4(BLM):c.3936T>C (p.Ala1312=) rs1034211979
NM_000057.4(BLM):c.393C>T (p.Ser131=) rs1596218349
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940
NM_000057.4(BLM):c.403G>T (p.Ala135Ser) rs373832397
NM_000057.4(BLM):c.4068G>C (p.Lys1356Asn) rs587779890
NM_000057.4(BLM):c.4076+4T>G rs183176301
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.4122C>T (p.Ser1374=) rs145277875
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val) rs587779892
NM_000057.4(BLM):c.4164G>T (p.Ala1388=) rs1429829646
NM_000057.4(BLM):c.4179T>C (p.Asn1393=) rs1596276561
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000057.4(BLM):c.4200T>C (p.Ala1400=) rs1596276585
NM_000057.4(BLM):c.4209G>A (p.Lys1403=) rs1254277623
NM_000057.4(BLM):c.4215A>T (p.Ile1405=) rs1596276635
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000057.4(BLM):c.456T>C (p.Asn152=) rs1316621251
NM_000057.4(BLM):c.540A>T (p.Val180=) rs763776756
NM_000057.4(BLM):c.542G>T (p.Ser181Ile) rs587779893
NM_000057.4(BLM):c.558A>G (p.Ser186=) rs982183816
NM_000057.4(BLM):c.564G>A (p.Lys188=) rs1596218841
NM_000057.4(BLM):c.604A>G (p.Asn202Asp) rs587779894
NM_000057.4(BLM):c.648G>A (p.Glu216=) rs1208450024
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519
NM_000057.4(BLM):c.789A>G (p.Glu263=) rs1596219365
NM_000057.4(BLM):c.800-4G>A rs1338362749
NM_000057.4(BLM):c.800-5T>C rs1596220949
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.81T>C (p.Leu27=) rs1596215726
NM_000057.4(BLM):c.822T>C (p.Asn274=) rs1596221010
NM_000057.4(BLM):c.842A>C (p.His281Pro) rs202042636
NM_000057.4(BLM):c.888T>C (p.Tyr296=) rs139277089
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991
NM_000057.4(BLM):c.906A>G (p.Pro302=) rs1596221231
NM_000057.4(BLM):c.909T>C (p.Pro303=) rs767770187
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061

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