ClinVar Miner

List of variants in gene BLM reported as likely benign for Bloom syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 194
Download table as spreadsheet
HGVS dbSNP
NM_000057.4(BLM):c.*77T>A rs116293756
NM_000057.4(BLM):c.1023T>G (p.Leu341=) rs28385006
NM_000057.4(BLM):c.1086C>T (p.Asp362=) rs375632163
NM_000057.4(BLM):c.1088-38C>T rs758949040
NM_000057.4(BLM):c.1088-39C>T rs878957002
NM_000057.4(BLM):c.1088-40T>C rs184128669
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.4(BLM):c.1191G>C (p.Gly397=) rs780393464
NM_000057.4(BLM):c.1194C>T (p.Asn398=) rs202103556
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1236G>A (p.Thr412=) rs762617509
NM_000057.4(BLM):c.1245T>C (p.Asp415=) rs768154708
NM_000057.4(BLM):c.1296T>C (p.Pro432=) rs1555419811
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.1308T>C (p.Asp436=) rs140178590
NM_000057.4(BLM):c.1347T>C (p.Ser449=) rs1481709366
NM_000057.4(BLM):c.1398G>A (p.Gly466=) rs1596229756
NM_000057.4(BLM):c.1404T>C (p.Cys468=) rs1236929438
NM_000057.4(BLM):c.1449G>A (p.Arg483=) rs1596229906
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.4(BLM):c.1482C>T (p.Thr494=) rs1596229985
NM_000057.4(BLM):c.1497C>T (p.Ser499=) rs540772424
NM_000057.4(BLM):c.1536A>G (p.Gly512=) rs777277614
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.4(BLM):c.1749C>T (p.Ala583=) rs369660800
NM_000057.4(BLM):c.174T>C (p.Pro58=) rs576862402
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543
NM_000057.4(BLM):c.1788A>G (p.Val596=) rs1555419972
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.4(BLM):c.1809C>G (p.Ala603=) rs1596230587
NM_000057.4(BLM):c.1818C>T (p.Asp606=) rs1343649830
NM_000057.4(BLM):c.1833A>G (p.Ser611=) rs747181657
NM_000057.4(BLM):c.1854C>T (p.Asn618=) rs371519654
NM_000057.4(BLM):c.1883-6T>C rs1596232042
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.1992C>G (p.Gly664=) rs886043359
NM_000057.4(BLM):c.201T>C (p.Val67=) rs563887813
NM_000057.4(BLM):c.2022G>A (p.Glu674=) rs1596232275
NM_000057.4(BLM):c.2025G>A (p.Ala675=) rs781424357
NM_000057.4(BLM):c.2049A>G (p.Glu683=) rs201440695
NM_000057.4(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.4(BLM):c.204C>G (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.2074+56G>A rs942432763
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.2160C>T (p.Ile720=) rs28385028
NM_000057.4(BLM):c.2193+9T>C rs780311860
NM_000057.4(BLM):c.2194-6A>G rs946104255
NM_000057.4(BLM):c.2210_2211insA (p.Thr738fs) rs758886088
NM_000057.4(BLM):c.2211G>T (p.Leu737=) rs933356579
NM_000057.4(BLM):c.2212_2213insTTC (p.Thr738delinsIlePro) rs780538610
NM_000057.4(BLM):c.2229C>T (p.Asp743=) rs889046632
NM_000057.4(BLM):c.2235A>G (p.Glu745=) rs1596235875
NM_000057.4(BLM):c.2241A>G (p.Thr747=) rs1060503987
NM_000057.4(BLM):c.2244T>C (p.Asn748=) rs1223636319
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336
NM_000057.4(BLM):c.2307+10T>G rs755168095
NM_000057.4(BLM):c.2310C>T (p.Ile770=) rs759705000
NM_000057.4(BLM):c.2316A>G (p.Ala772=) rs752835659
NM_000057.4(BLM):c.231A>G (p.Leu77=) rs760696149
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073
NM_000057.4(BLM):c.2397T>C (p.Cys799=) rs771209978
NM_000057.4(BLM):c.2407-6A>G rs1478497820
NM_000057.4(BLM):c.2454C>G (p.Arg818=) rs746409922
NM_000057.4(BLM):c.2505C>G (p.Pro835=) rs1023396216
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280
NM_000057.4(BLM):c.2517G>A (p.Lys839=) rs1353519492
NM_000057.4(BLM):c.252A>G (p.Gln84=) rs370062646
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2555+8G>A rs1388713132
NM_000057.4(BLM):c.2595T>C (p.Tyr865=) rs1060503989
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.2604G>A (p.Pro868=) rs768447097
NM_000057.4(BLM):c.261G>A (p.Lys87=) rs372668612
NM_000057.4(BLM):c.2646C>T (p.Ile882=) rs760072975
NM_000057.4(BLM):c.2679T>C (p.Ile893=) rs751945434
NM_000057.4(BLM):c.2688C>T (p.Leu896=) rs1488182321
NM_000057.4(BLM):c.2691C>T (p.Ser897=) rs756155242
NM_000057.4(BLM):c.2709C>T (p.Thr903=) rs1555422522
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.2769T>C (p.Ser923=) rs1596252204
NM_000057.4(BLM):c.2775T>C (p.Ser925=) rs1596252208
NM_000057.4(BLM):c.2784T>C (p.Asp928=) rs1032746564
NM_000057.4(BLM):c.2787A>G (p.Glu929=) rs764679551
NM_000057.4(BLM):c.2824-7A>G rs374616797
NM_000057.4(BLM):c.2838A>T (p.Thr946=) rs200850440
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962
NM_000057.4(BLM):c.2856G>A (p.Gly952=) rs140559841
NM_000057.4(BLM):c.2862C>T (p.Asp954=) rs907953613
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.2877A>C (p.Arg959=) rs773582992
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226
NM_000057.4(BLM):c.2898C>T (p.Leu966=) rs201220226
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119
NM_000057.4(BLM):c.2994G>A (p.Val998=) rs1596257300
NM_000057.4(BLM):c.3019+17T>C rs532036885
NM_000057.4(BLM):c.3019+7T>A rs761087545
NM_000057.4(BLM):c.3019+7T>C rs761087545
NM_000057.4(BLM):c.3020-7C>T rs1596259789
NM_000057.4(BLM):c.3039T>C (p.His1013=) rs747406569
NM_000057.4(BLM):c.3045A>G (p.Thr1015=) rs966206627
NM_000057.4(BLM):c.3117A>G (p.Ile1039Met) rs576199850
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.3210+10G>T rs765057634
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.3252T>C (p.Ile1084=) rs751147296
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162
NM_000057.4(BLM):c.3348C>T (p.Asp1116=) rs372697241
NM_000057.4(BLM):c.3358+7_3358+13del rs1555423799
NM_000057.4(BLM):c.3358+9T>C rs1555423800
NM_000057.4(BLM):c.3426C>T (p.Ala1142=) rs147148171
NM_000057.4(BLM):c.342T>C (p.Thr114=) rs746257638
NM_000057.4(BLM):c.3447G>A (p.Leu1149=) rs1195487968
NM_000057.4(BLM):c.345G>A (p.Pro115=) rs374578971
NM_000057.4(BLM):c.345G>C (p.Pro115=) rs374578971
NM_000057.4(BLM):c.3501G>A (p.Ala1167=) rs752559933
NM_000057.4(BLM):c.3504C>T (p.Ile1168=) rs758199564
NM_000057.4(BLM):c.3585C>T (p.Ser1195=) rs1023322113
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.3613G>A (p.Val1205Ile) rs28385141
NM_000057.4(BLM):c.3729C>T (p.Thr1243=) rs747293738
NM_000057.4(BLM):c.372C>T (p.Asn124=) rs776602757
NM_000057.4(BLM):c.3747T>A (p.Leu1249=) rs776748831
NM_000057.4(BLM):c.3751+10C>T rs199685140
NM_000057.4(BLM):c.3751+8C>T rs765243972
NM_000057.4(BLM):c.3751+9A>C rs774368488
NM_000057.4(BLM):c.3752-6G>A rs747358693
NM_000057.4(BLM):c.3756T>A (p.Ser1252=) rs771209895
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.3870G>A (p.Ser1290=) rs1250145765
NM_000057.4(BLM):c.3875-6T>C rs1021714718
NM_000057.4(BLM):c.387_389del (p.Lys130del) rs587778105
NM_000057.4(BLM):c.3921C>T (p.Pro1307=) rs149286215
NM_000057.4(BLM):c.3933C>T (p.Ala1311=) rs756451802
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.3957A>T (p.Ile1319=) rs1555425082
NM_000057.4(BLM):c.4023C>T (p.Ala1341=) rs1596273681
NM_000057.4(BLM):c.4029A>G (p.Gln1343=) rs1596273696
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.4077-5T>C rs200653178
NM_000057.4(BLM):c.4110A>G (p.Lys1370=) rs1555425406
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135
NM_000057.4(BLM):c.4122C>T (p.Ser1374=) rs145277875
NM_000057.4(BLM):c.4128C>T (p.Ile1376=) rs1314592673
NM_000057.4(BLM):c.4164G>A (p.Ala1388=) rs1429829646
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.4206G>A (p.Pro1402=) rs775975894
NM_000057.4(BLM):c.4224G>A (p.Pro1408=) rs774367622
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569
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.486T>C (p.Thr162=) rs1596218608
NM_000057.4(BLM):c.489T>C (p.Ser163=) rs781044650
NM_000057.4(BLM):c.504A>T (p.Ser168=) rs1596218655
NM_000057.4(BLM):c.543C>T (p.Ser181=) rs761288442
NM_000057.4(BLM):c.645C>T (p.Ser215=) rs56218710
NM_000057.4(BLM):c.672G>A (p.Gln224=) rs1596219135
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548
NM_000057.4(BLM):c.702T>C (p.Asp234=) rs1271054585
NM_000057.4(BLM):c.711C>T (p.Cys237=) rs752961612
NM_000057.4(BLM):c.759G>A (p.Gln253=) rs34580216
NM_000057.4(BLM):c.768C>T (p.Asp256=) rs765788538
NM_000057.4(BLM):c.780T>C (p.Thr260=) rs55763079
NM_000057.4(BLM):c.799+7A>G rs1596219393
NM_000057.4(BLM):c.799+7_799+10del rs1218966283
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000057.4(BLM):c.810A>G (p.Glu270=) rs1596220978
NM_000057.4(BLM):c.861A>G (p.Pro287=) rs1555418666
NM_000057.4(BLM):c.882T>C (p.Asp294=) rs201168622
NM_000057.4(BLM):c.918A>G (p.Glu306=) rs760806762
NM_000057.4(BLM):c.930T>C (p.Ser310=) rs1471248156
NM_000057.4(BLM):c.933T>C (p.Ala311=) rs1413246062
NM_000057.4(BLM):c.959+7T>C rs1274044135
NM_000057.4(BLM):c.960-4G>A rs1555418976
NM_000057.4(BLM):c.963G>A (p.Thr321=) rs779461745
NM_000057.4(BLM):c.99-9A>T rs1419730289

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