ClinVar Miner

List of variants in gene BLM reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 152
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HGVS dbSNP
NM_000057.4(BLM):c.1008C>T (p.Ser336=) rs1490955099
NM_000057.4(BLM):c.1071C>G (p.Thr357=) rs1596223942
NM_000057.4(BLM):c.1086C>T (p.Asp362=) rs375632163
NM_000057.4(BLM):c.1100G>A (p.Ser367Asn) rs772176483
NM_000057.4(BLM):c.1134C>T (p.His378=) rs757896754
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.4(BLM):c.1191G>A (p.Gly397=) rs780393464
NM_000057.4(BLM):c.1194C>T (p.Asn398=) rs202103556
NM_000057.4(BLM):c.1245T>C (p.Asp415=) rs768154708
NM_000057.4(BLM):c.1251T>C (p.Asn417=) rs1555419791
NM_000057.4(BLM):c.1278A>C (p.Ser426=) rs1596229500
NM_000057.4(BLM):c.129A>G (p.Ser43=) rs767605181
NM_000057.4(BLM):c.1305T>C (p.Leu435=) rs778967807
NM_000057.4(BLM):c.1305T>G (p.Leu435=) rs778967807
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.1420C>T (p.Leu474=) rs1596229827
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.4(BLM):c.1486T>C (p.Leu496=) rs1596229989
NM_000057.4(BLM):c.1497C>A (p.Ser499=) rs540772424
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys) rs192491153
NM_000057.4(BLM):c.1578A>C (p.Thr526=) rs1596230169
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.4(BLM):c.1707C>T (p.Asp569=) rs1596230402
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.1764G>A (p.Lys588=) rs1596230518
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543
NM_000057.4(BLM):c.1797A>G (p.Arg599=) rs745353821
NM_000057.4(BLM):c.1863G>A (p.Glu621=) rs374965438
NM_000057.4(BLM):c.1881T>C (p.Thr627=) rs148678729
NM_000057.4(BLM):c.18A>G (p.Gln6=) rs372771577
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.4(BLM):c.1926G>A (p.Glu642=) rs763017658
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.1953T>C (p.His651=) rs755517718
NM_000057.4(BLM):c.1977T>C (p.Phe659=) rs1596232235
NM_000057.4(BLM):c.2025G>A (p.Ala675=) rs781424357
NM_000057.4(BLM):c.2037A>G (p.Ala679=) rs1555420173
NM_000057.4(BLM):c.2038C>T (p.Leu680=) rs1250342410
NM_000057.4(BLM):c.2049A>G (p.Glu683=) rs201440695
NM_000057.4(BLM):c.204C>G (p.Thr68=) rs199927688
NM_000057.4(BLM):c.204C>T (p.Thr68=) rs199927688
NM_000057.4(BLM):c.2070G>A (p.Pro690=) rs148078150
NM_000057.4(BLM):c.2070G>T (p.Pro690=) rs148078150
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306
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.2241A>G (p.Thr747=) rs1060503987
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.2277C>T (p.Ile759=) rs761106964
NM_000057.4(BLM):c.2289A>G (p.Leu763=) rs1567044034
NM_000057.4(BLM):c.2454C>A (p.Arg818=) rs746409922
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032
NM_000057.4(BLM):c.2505C>G (p.Pro835=) rs1023396216
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2598A>G (p.Val866=) rs574053990
NM_000057.4(BLM):c.2598A>T (p.Val866=) rs574053990
NM_000057.4(BLM):c.261G>A (p.Lys87=) rs372668612
NM_000057.4(BLM):c.2655C>T (p.His885=) rs1404506326
NM_000057.4(BLM):c.2661A>G (p.Pro887=) rs753160480
NM_000057.4(BLM):c.2679T>C (p.Ile893=) rs751945434
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.2787A>G (p.Glu929=) rs764679551
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440
NM_000057.4(BLM):c.2868G>A (p.Pro956=) rs199861261
NM_000057.4(BLM):c.2871C>T (p.Asp957=) rs878853554
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.2985T>C (p.Tyr995=) rs1367612540
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val) rs201829983
NM_000057.4(BLM):c.3039T>C (p.His1013=) rs747406569
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3042T>C (p.His1014=) rs1060503986
NM_000057.4(BLM):c.3045A>G (p.Thr1015=) rs966206627
NM_000057.4(BLM):c.309A>T (p.Gly103=) rs1596218155
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.4(BLM):c.3180T>C (p.Asp1060=) rs749458622
NM_000057.4(BLM):c.3195T>C (p.Asn1065=) rs1297274221
NM_000057.4(BLM):c.3216T>C (p.Tyr1072=) rs1596263143
NM_000057.4(BLM):c.3225A>G (p.Arg1075=) rs7171673
NM_000057.4(BLM):c.3237C>T (p.Asp1079=) rs148237075
NM_000057.4(BLM):c.3348C>T (p.Asp1116=) rs372697241
NM_000057.4(BLM):c.3355T>C (p.Leu1119=) rs201847046
NM_000057.4(BLM):c.3360G>T (p.Gly1120=) rs1567062602
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu) rs145027663
NM_000057.4(BLM):c.3426C>T (p.Ala1142=) rs147148171
NM_000057.4(BLM):c.345G>A (p.Pro115=) rs374578971
NM_000057.4(BLM):c.3468T>C (p.Asp1156=) rs1325465971
NM_000057.4(BLM):c.3492T>C (p.Asn1164=) rs762058424
NM_000057.4(BLM):c.3501G>A (p.Ala1167=) rs752559933
NM_000057.4(BLM):c.3513G>A (p.Val1171=) rs780615126
NM_000057.4(BLM):c.3585C>T (p.Ser1195=) rs1023322113
NM_000057.4(BLM):c.3591T>C (p.Ser1197=) rs1596268143
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) rs151114049
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.3756T>A (p.Ser1252=) rs771209895
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.3828G>A (p.Ala1276=) rs369383272
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.4(BLM):c.3867A>G (p.Thr1289=) rs759000443
NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu) rs1031421025
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.3903G>A (p.Leu1301=) rs762626349
NM_000057.4(BLM):c.3921C>T (p.Pro1307=) rs149286215
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754
NM_000057.4(BLM):c.3948C>T (p.Asp1316=) rs375896520
NM_000057.4(BLM):c.3951G>A (p.Glu1317=) rs138188609
NM_000057.4(BLM):c.395G>A (p.Arg132Gln) rs775197136
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845
NM_000057.4(BLM):c.4011A>G (p.Lys1337=) rs142063329
NM_000057.4(BLM):c.4023C>T (p.Ala1341=) rs1596273681
NM_000057.4(BLM):c.4055C>T (p.Ser1352Phe) rs1596273746
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135
NM_000057.4(BLM):c.417A>G (p.Leu139=) rs756759106
NM_000057.4(BLM):c.4182C>A (p.Ser1394Arg) rs1596276569
NM_000057.4(BLM):c.4186T>C (p.Leu1396=) rs376734461
NM_000057.4(BLM):c.4188G>A (p.Leu1396=) rs1226163466
NM_000057.4(BLM):c.4191G>A (p.Gly1397=) rs1596276580
NM_000057.4(BLM):c.4224G>A (p.Pro1408=) rs774367622
NM_000057.4(BLM):c.450C>T (p.Thr150=) rs148861300
NM_000057.4(BLM):c.453C>A (p.Ile151=) rs1200887609
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681
NM_000057.4(BLM):c.480T>C (p.Phe160=) rs1251281091
NM_000057.4(BLM):c.507T>C (p.Phe169=) rs1596218665
NM_000057.4(BLM):c.543C>T (p.Ser181=) rs761288442
NM_000057.4(BLM):c.60A>T (p.Thr20=) rs1596215695
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.646G>A (p.Glu216Lys) rs779934502
NM_000057.4(BLM):c.664G>A (p.Glu222Lys) rs774075577
NM_000057.4(BLM):c.699C>T (p.Ser233=) rs200125311
NM_000057.4(BLM):c.711C>T (p.Cys237=) rs752961612
NM_000057.4(BLM):c.722G>A (p.Gly241Asp) rs200897029
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.792T>C (p.Asp264=) rs764442592
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000057.4(BLM):c.816G>A (p.Lys272=) rs139295905
NM_000057.4(BLM):c.894G>A (p.Thr298=) rs762144355
NM_000057.4(BLM):c.930T>C (p.Ser310=) rs1471248156
NM_000057.4(BLM):c.972C>T (p.Asp324=) rs769094708
NM_000057.4(BLM):c.991A>G (p.Lys331Glu) rs1596223773

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