ClinVar Miner

List of variants in gene BLM reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 240
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.3359-121_3359-120insA rs11377009 0.67736
NM_000057.4(BLM):c.3751+166A>G rs454060 0.66236
NM_000057.4(BLM):c.3874+285A>G rs436723 0.65867
NM_000057.4(BLM):c.3559-95G>A rs2301602 0.62788
NM_000057.4(BLM):c.3751+195C>T rs405610 0.37555
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_000057.4(BLM):c.3019+105G>A rs2072352 0.36650
NM_000057.4(BLM):c.3019+184T>A rs2072351 0.34438
NM_000057.4(BLM):c.3020-189G>A rs10083584 0.19533
NM_000057.4(BLM):c.4076+146A>G rs16944863 0.17647
NM_000057.4(BLM):c.3020-408C>T rs28385099 0.17562
NM_000057.4(BLM):c.2663-310C>T rs28385062 0.17553
NM_000057.4(BLM):c.2824-129del rs112877330 0.16901
NM_000057.4(BLM):c.3358+32T>G rs17273842 0.16733
NM_000057.4(BLM):c.2308-50G>A rs17273206 0.16462
NM_000057.4(BLM):c.3558+185C>A rs28385139 0.15542
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_000057.4(BLM):c.1088-218A>G rs60129166 0.15460
NM_000057.4(BLM):c.2556-291T>G rs28385054 0.10736
NM_000057.4(BLM):c.-5+295G>C rs7163132 0.09851
NM_000057.4(BLM):c.-5+274G>C rs7163120 0.09814
NM_000057.4(BLM):c.4077-130G>A rs7165117 0.08834
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_000057.4(BLM):c.2193+61G>C rs28385029 0.07054
NM_000057.4(BLM):c.2193+84C>T rs17181698 0.07043
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_000057.4(BLM):c.3210+209A>G rs6496727 0.06235
NM_000057.4(BLM):c.2555+80_2555+83dup rs28385039 0.06222
NM_000057.4(BLM):c.2075-176A>G rs28385025 0.05936
NM_000057.4(BLM):c.2075-285G>C rs28385024 0.05870
NM_000057.4(BLM):c.2074+280G>A rs28385022 0.05802
NM_000057.4(BLM):c.959+187C>T rs28384993 0.04552
NM_000057.4(BLM):c.3752-170C>T rs28385150 0.03872
NM_000057.4(BLM):c.3752-119C>T rs16944859 0.03230
NM_000057.4(BLM):c.2194-147G>A rs62025115 0.01528
NM_000057.4(BLM):c.800-253A>G rs114559166 0.01287
NM_000057.4(BLM):c.1882+268A>G rs28385014 0.01273
NM_000057.4(BLM):c.2193+126T>A rs28385030 0.01123
NM_000057.4(BLM):c.2074+89A>G rs28385020 0.01110
NM_000057.4(BLM):c.3559-213T>G rs28385140 0.01092
NM_000057.4(BLM):c.2307+278C>T rs77547928 0.01009
NM_000057.4(BLM):c.99-198G>A rs116692414 0.00974
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_000057.4(BLM):c.1088-277G>A rs187622546 0.00858
NM_000057.4(BLM):c.3020-375G>A rs28385100 0.00845
NM_000057.4(BLM):c.2663-102G>T rs28385065 0.00809
NM_000057.4(BLM):c.2824-221G>A rs28385073 0.00807
NM_000057.4(BLM):c.3359-204A>C rs28385137 0.00789
NM_000057.4(BLM):c.2823+264T>G rs138522904 0.00777
NM_000057.4(BLM):c.98+33G>T rs28384975 0.00673
NM_000057.4(BLM):c.1088-215G>A rs8042863 0.00631
NM_000057.4(BLM):c.2075-75G>A rs56263475 0.00573
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_000057.4(BLM):c.4077-185C>T rs55821650 0.00536
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845 0.00502
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082 0.00496
NM_000057.4(BLM):c.3210+94C>T rs112173999 0.00481
NM_000057.4(BLM):c.960-283T>C rs56286662 0.00442
NM_000057.4(BLM):c.1087+180A>G rs189445793 0.00436
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_000057.4(BLM):c.3210+106_3210+107del rs28385104 0.00383
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009 0.00382
NM_000057.4(BLM):c.3211-60C>A rs28385120 0.00380
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_000057.4(BLM):c.3020-66T>C rs28385101 0.00379
NM_000057.4(BLM):c.1883-252A>T rs55727309 0.00363
NM_000057.4(BLM):c.2663-149T>C rs28385064 0.00352
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_000057.4(BLM):c.2075-14T>C rs28385026 0.00240
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266 0.00213
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000057.4(BLM):c.-5+16G>C rs547768822 0.00150
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000057.4(BLM):c.3359-13A>G rs200250931 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725 0.00090
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119 0.00066
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681 0.00051
NM_000057.4(BLM):c.645C>T (p.Ser215=) rs56218710 0.00045
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000057.4(BLM):c.3813G>A (p.Leu1271=) rs376082823 0.00039
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569 0.00029
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000057.4(BLM):c.174T>C (p.Pro58=) rs576862402 0.00023
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys) rs557057587 0.00023
NM_000057.4(BLM):c.1927C>T (p.Arg643Cys) rs373090621 0.00018
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu) rs145027663 0.00016
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_000057.4(BLM):c.842A>C (p.His281Pro) rs202042636 0.00014
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile) rs202196488 0.00013
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr) rs571152089 0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808 0.00011
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940 0.00010
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser) rs141269464 0.00008
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675 0.00008
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471 0.00007
NM_000057.4(BLM):c.3358G>A (p.Gly1120Arg) rs139773499 0.00007
NM_000057.4(BLM):c.1838C>T (p.Thr613Ile) rs550417200 0.00006
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050 0.00006
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn) rs146723808 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754 0.00006
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val) rs587779892 0.00006
NM_000057.4(BLM):c.542G>T (p.Ser181Ile) rs587779893 0.00006
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519 0.00006
NM_000057.4(BLM):c.1261G>A (p.Ala421Thr) rs587779879 0.00005
NM_000057.4(BLM):c.368A>G (p.Gln123Arg) rs371223446 0.00005
NM_000057.4(BLM):c.934T>G (p.Ser312Ala) rs372454889 0.00005
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys) rs145029382 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000057.4(BLM):c.3117A>G (p.Ile1039Met) rs576199850 0.00004
NM_000057.4(BLM):c.3210+2dup rs755232267 0.00004
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu) rs750532596 0.00004
NM_000057.4(BLM):c.722G>A (p.Gly241Asp) rs200897029 0.00004
NM_000057.4(BLM):c.403G>T (p.Ala135Ser) rs373832397 0.00003
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met) rs587779891 0.00003
NM_000057.4(BLM):c.820A>G (p.Asn274Asp) rs750551907 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000057.4(BLM):c.1148T>C (p.Ile383Thr) rs556577644 0.00002
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028 0.00002
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) rs587783037 0.00002
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888 0.00002
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys) rs730880251 0.00002
NM_000057.4(BLM):c.395G>A (p.Arg132Gln) rs775197136 0.00002
NM_000057.4(BLM):c.488C>T (p.Ser163Phe) rs745819553 0.00002
NM_000057.4(BLM):c.1032A>T (p.Lys344Asn) rs148701303 0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.1348A>G (p.Met450Val) rs200385935 0.00001
NM_000057.4(BLM):c.1433G>C (p.Gly478Ala) rs759810567 0.00001
NM_000057.4(BLM):c.1612G>C (p.Ala538Pro) rs1318049766 0.00001
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu) rs773761682 0.00001
NM_000057.4(BLM):c.2422C>T (p.Arg808Cys) rs759330541 0.00001
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu) rs749632465 0.00001
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024 0.00001
NM_000057.4(BLM):c.264C>A (p.Asp88Glu) rs757984551 0.00001
NM_000057.4(BLM):c.2806A>G (p.Asn936Asp) rs1422513540 0.00001
NM_000057.4(BLM):c.2876G>A (p.Arg959Gln) rs772585415 0.00001
NM_000057.4(BLM):c.3076A>G (p.Met1026Val) rs766225961 0.00001
NM_000057.4(BLM):c.3210+4A>G rs776621429 0.00001
NM_000057.4(BLM):c.329A>G (p.Asp110Gly) rs1292239409 0.00001
NM_000057.4(BLM):c.344C>T (p.Pro115Leu) rs371100621 0.00001
NM_000057.4(BLM):c.3727dup (p.Thr1243fs) rs367543021 0.00001
NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu) rs1031421025 0.00001
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) rs587779889 0.00001
NM_000057.4(BLM):c.3970C>T (p.His1324Tyr) rs748943489 0.00001
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp) rs548600410 0.00001
NM_000057.4(BLM):c.4205C>T (p.Pro1402Leu) rs770313956 0.00001
NM_000057.4(BLM):c.44G>A (p.Arg15His) rs752755503 0.00001
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548 0.00001
NM_000057.4(BLM):c.-4-253G>C rs2238335
NM_000057.4(BLM):c.1003C>G (p.Leu335Val) rs1265514490
NM_000057.4(BLM):c.1088-175del rs367763242
NM_000057.4(BLM):c.1088-175dup rs367763242
NM_000057.4(BLM):c.1088-176_1088-175del rs367763242
NM_000057.4(BLM):c.1088-216del rs60293840
NM_000057.4(BLM):c.1088-217_1088-216del rs60293840
NM_000057.4(BLM):c.1123G>C (p.Val375Leu) rs1596228852
NM_000057.4(BLM):c.1364T>G (p.Phe455Cys)
NM_000057.4(BLM):c.1385del (p.Ser462fs) rs730881429
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro) rs368547042
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1559T>C (p.Phe520Ser) rs1410283592
NM_000057.4(BLM):c.1583C>T (p.Thr528Ile) rs1596230185
NM_000057.4(BLM):c.1631A>G (p.Glu544Gly) rs1567041307
NM_000057.4(BLM):c.1868T>C (p.Ile623Thr) rs1567041556
NM_000057.4(BLM):c.1882+216A>G
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg) rs377563699
NM_000057.4(BLM):c.2039T>C (p.Leu680Pro)
NM_000057.4(BLM):c.205G>T (p.Glu69Ter) rs746195311
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu) rs761589072
NM_000057.4(BLM):c.2074+5G>A rs587779880
NM_000057.4(BLM):c.2155C>T (p.Leu719Phe) rs587779881
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter) rs1896146578
NM_000057.4(BLM):c.2308-2A>G rs1248548542
NM_000057.4(BLM):c.2393A>C (p.His798Pro)
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2452C>T (p.Arg818Cys) rs1279814185
NM_000057.4(BLM):c.2452_2454delinsGGG (p.Arg818Gly) rs587779882
NM_000057.4(BLM):c.2503C>T (p.Pro835Ser) rs2151166278
NM_000057.4(BLM):c.2540T>G (p.Ile847Ser) rs756664681
NM_000057.4(BLM):c.2555+80C>T rs79508004
NM_000057.4(BLM):c.2556-130C>T rs28385056
NM_000057.4(BLM):c.2624C>A (p.Ala875Glu) rs1596250413
NM_000057.4(BLM):c.2683T>G (p.Cys895Gly) rs587779883
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr) rs758311406
NM_000057.4(BLM):c.2732A>T (p.Asp911Val) rs1596252149
NM_000057.4(BLM):c.2743G>C (p.Ala915Pro)
NM_000057.4(BLM):c.2824-163_2824-159del rs3217055
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.299dup (p.Arg101fs)
NM_000057.4(BLM):c.3020-209dup rs200858224
NM_000057.4(BLM):c.3020-311G>T rs8027126
NM_000057.4(BLM):c.3029A>T (p.Asp1010Val) rs1459742200
NM_000057.4(BLM):c.3191A>G (p.Asp1064Gly) rs367543032
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr) rs587779885
NM_000057.4(BLM):c.3210+44del rs3214113
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753
NM_000057.4(BLM):c.3261del (p.Phe1087fs) rs1319786857
NM_000057.4(BLM):c.3313C>T (p.Pro1105Ser)
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr) rs746602812
NM_000057.4(BLM):c.3445del (p.Lys1148_Leu1149insTer) rs1555424298
NM_000057.4(BLM):c.3651A>T (p.Lys1217Asn) rs587779887
NM_000057.4(BLM):c.3875C>A (p.Ala1292Asp) rs1567066745
NM_000057.4(BLM):c.387_389del (p.Lys130del) rs587778105
NM_000057.4(BLM):c.3967T>C (p.Ser1323Pro)
NM_000057.4(BLM):c.4068G>C (p.Lys1356Asn) rs587779890
NM_000057.4(BLM):c.4076+278G>A rs28385159
NM_000057.4(BLM):c.4077-59_4077-57dup rs10685387
NM_000057.4(BLM):c.4077-61_4077-59dup rs200699695
NM_000057.4(BLM):c.4124G>A (p.Ser1375Asn) rs139115275
NM_000057.4(BLM):c.604A>G (p.Asn202Asp) rs587779894
NM_000057.4(BLM):c.714C>G (p.Ile238Met)
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.800-120T>C rs7183841
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del) rs587779895
NM_000057.4(BLM):c.878A>G (p.Asp293Gly)
NM_000057.4(BLM):c.913C>T (p.Pro305Ser) rs1895696721
NM_000057.4(BLM):c.959+248_959+249dup rs753796274
NM_000057.4(BLM):c.959+249dup rs753796274
NM_000057.4(BLM):c.959G>C (p.Ser320Thr) rs757112333
NM_000057.4(BLM):c.98+256T>G rs28384977

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