ClinVar Miner

List of variants in gene BLM reported as pathogenic for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 360
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) rs587783037 0.00002
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888 0.00002
NM_000057.4(BLM):c.670C>T (p.Gln224Ter) rs918752814 0.00002
NM_000057.4(BLM):c.1054G>T (p.Glu352Ter) rs369583279 0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964 0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter) rs1400231534 0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019 0.00001
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024 0.00001
NM_000057.4(BLM):c.3020-258A>G rs1301751251 0.00001
NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter) rs1472603091 0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) rs1057517154 0.00001
NM_000057.4(BLM):c.3727dup (p.Thr1243fs) rs367543021 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NC_000015.10:g.(?_90747383)_(90751956_?)del
NC_000015.10:g.(?_90747393)_(90815279_?)del
NC_000015.10:g.(?_90749357)_(90765424_?)del
NC_000015.10:g.(?_90754801)_(90754948_?)del
NC_000015.10:g.(?_90769123)_(90769596_?)del
NC_000015.10:g.(?_90782812)_(90785091_?)del
NC_000015.10:g.(?_90790639)_(90790854_?)del
NC_000015.10:g.(?_90790643)_(90790850_?)del
NC_000015.10:g.(?_90811195)_(90811416_?)del
NC_000015.9:g.(?_91289802)_(91292950_?)del
NC_000015.9:g.(?_91290613)_(91312826_?)del
NC_000015.9:g.(?_91290613)_(91354646_?)del
NC_000015.9:g.(?_91290623)_(91290730_?)del
NC_000015.9:g.(?_91290623)_(91293317_?)del
NC_000015.9:g.(?_91290623)_(91298188_?)del
NC_000015.9:g.(?_91290623)_(91308654_?)del
NC_000015.9:g.(?_91290623)_(91341587_?)del
NC_000015.9:g.(?_91295007)_(91295186_?)del
NC_000015.9:g.(?_91298021)_(91298188_?)del
NC_000015.9:g.(?_91303357)_(91312836_?)del
NC_000015.9:g.(?_91312656)_(91316451_?)del
NC_000015.9:g.(?_91326032)_(91326178_?)del
NC_000015.9:g.(?_91333859)_(91334094_?)del
NC_000015.9:g.(?_91333859)_(91337607_?)del
NC_000015.9:g.(?_91337387)_(91354646_?)del
NC_000015.9:g.(?_91341410)_(91341577_?)del
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer) rs1057517359
NM_000057.4(BLM):c.1043dup (p.Met348fs) rs1567038003
NM_000057.4(BLM):c.1051C>T (p.Gln351Ter)
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1093C>T (p.Gln365Ter)
NM_000057.4(BLM):c.1093_1096del (p.Arg364_Gln365insTer) rs2151157115
NM_000057.4(BLM):c.1129del (p.Glu377fs) rs1555419710
NM_000057.4(BLM):c.1154del (p.Thr385fs)
NM_000057.4(BLM):c.1173_1180dup (p.Leu394Ter) rs1596228957
NM_000057.4(BLM):c.1176dup (p.Leu393fs) rs1358266880
NM_000057.4(BLM):c.1180_1181del (p.Leu394fs) rs758132052
NM_000057.4(BLM):c.1195G>T (p.Glu399Ter)
NM_000057.4(BLM):c.1204dup (p.Gln402fs)
NM_000057.4(BLM):c.1220+3A>G rs1429490877
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr) rs1350192744
NM_000057.4(BLM):c.1231_1232delinsTA (p.Leu411Ter)
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter) rs887921909
NM_000057.4(BLM):c.1237_1240del (p.Thr412_Glu413insTer)
NM_000057.4(BLM):c.124_127del (p.Ser42fs)
NM_000057.4(BLM):c.1254_1255del (p.Lys418_Ser419insTer) rs1895946786
NM_000057.4(BLM):c.1255del (p.Ser419fs) rs1895946786
NM_000057.4(BLM):c.1289_1290insAT (p.Tyr430Ter) rs749512704
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter)
NM_000057.4(BLM):c.1290_1291delinsATCAGGCCTCCATAG (p.Tyr430_Arg431delinsTer)
NM_000057.4(BLM):c.1295dup (p.Pro432_Asp433insTer) rs1555419806
NM_000057.4(BLM):c.1316del (p.Met439fs) rs1555419829
NM_000057.4(BLM):c.1341del (p.Asn448fs) rs2151158046
NM_000057.4(BLM):c.1346del (p.Ser449fs) rs2151158066
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter) rs730881428
NM_000057.4(BLM):c.1361del (p.Asn454fs) rs2151158091
NM_000057.4(BLM):c.1374del (p.Ser460fs)
NM_000057.4(BLM):c.1399dup (p.Asp467fs) rs1555419862
NM_000057.4(BLM):c.1410_1413del (p.Thr471fs) rs2151158165
NM_000057.4(BLM):c.1427del (p.Lys476fs)
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs) rs1555419873
NM_000057.4(BLM):c.1430_1431del (p.Thr477fs)
NM_000057.4(BLM):c.1440dup (p.Ala481fs) rs1596229894
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
NM_000057.4(BLM):c.1462G>T (p.Glu488Ter) rs1477193473
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1487del (p.Leu496fs) rs2151158316
NM_000057.4(BLM):c.1489C>T (p.Gln497Ter) rs2151158321
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter) rs2151158332
NM_000057.4(BLM):c.1535dup (p.Asn515fs) rs2151158428
NM_000057.4(BLM):c.1537A>T (p.Lys513Ter)
NM_000057.4(BLM):c.1544del (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1546G>T (p.Glu516Ter) rs1596230118
NM_000057.4(BLM):c.1549dup (p.Ser517fs) rs1555419902
NM_000057.4(BLM):c.1565del (p.Gly522fs) rs1895965271
NM_000057.4(BLM):c.1603A>T (p.Lys535Ter)
NM_000057.4(BLM):c.1622del (p.Asn541fs)
NM_000057.4(BLM):c.1624del (p.Asp542fs) rs747498968
NM_000057.4(BLM):c.1628T>G (p.Leu543Ter) rs367543038
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs) rs1205301894
NM_000057.4(BLM):c.1641_1642insAGAAAGAGAAACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA (p.Gln548delinsArgLysArgAsnProAlaGlyArgGlyGlySerArgLeuTer) rs2151158659
NM_000057.4(BLM):c.1642_1643insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGAGAAACCC (p.Gln548delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer) rs2151158629
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter) rs1356090839
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs) rs1057516361
NM_000057.4(BLM):c.1732A>T (p.Lys578Ter) rs2151158869
NM_000057.4(BLM):c.1752del (p.Gln585fs) rs1555419961
NM_000057.4(BLM):c.175_176del (p.Val59fs) rs2151146787
NM_000057.4(BLM):c.1763del (p.Lys588fs)
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs) rs1057516956
NM_000057.4(BLM):c.1765del (p.Glu589fs)
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter) rs138943954
NM_000057.4(BLM):c.1794_1797del (p.Glu598fs) rs2151158979
NM_000057.4(BLM):c.1805C>A (p.Ser602Ter)
NM_000057.4(BLM):c.1817_1818insGT (p.Asp606fs)
NM_000057.4(BLM):c.1820_1821insCTTCCAGTGTCTGGAAGTAGATGACACT (p.Leu608fs) rs2151159067
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)
NM_000057.4(BLM):c.1832C>G (p.Ser611Ter)
NM_000057.4(BLM):c.1864_1865del (p.Ser622fs) rs2151159180
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter) rs2151160492
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)
NM_000057.4(BLM):c.1921del (p.His641fs)
NM_000057.4(BLM):c.1928del (p.Arg643fs) rs2151160567
NM_000057.4(BLM):c.196_197insCTCTTTTCTAAGGAAGGCAAAACAAAAGCATTTAAAAACTAATTTAATTAAGGTTAAAAATTCATCTGCCGCTGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATAAAGATGTTA (p.Asn66delinsThrLeuPheTer)
NM_000057.4(BLM):c.1977del (p.His660fs)
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) rs762804291
NM_000057.4(BLM):c.1991_1992insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCNNNNNNNNNNACGGGTCGCTGGCGTTGAGCCGCTTTTGCCCCACTCACGTCCGCCGTCCCCCCGGGGCTACACAGCCATAAACCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGG (p.Leu665fs)
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter) rs1596232266
NM_000057.4(BLM):c.2020G>T (p.Glu674Ter)
NM_000057.4(BLM):c.2054_2055del (p.Cys685fs)
NM_000057.4(BLM):c.2074+5G>A rs587779880
NM_000057.4(BLM):c.2078del (p.Gly693fs) rs1896091563
NM_000057.4(BLM):c.2079_2080del (p.Gly693_Gly694insTer)
NM_000057.4(BLM):c.2093_2096dup (p.Tyr699Ter) rs753973474
NM_000057.4(BLM):c.2097C>A (p.Tyr699Ter) rs1896092339
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs)
NM_000057.4(BLM):c.2131_2132del (p.Val711fs) rs2151162445
NM_000057.4(BLM):c.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2160_2163dup (p.Asp722fs) rs2151162486
NM_000057.4(BLM):c.2167C>T (p.Gln723Ter) rs2151162501
NM_000057.4(BLM):c.2186_2187del (p.Ser729fs)
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2206_2207insTAGA (p.Tyr736fs) rs2151163791
NM_000057.4(BLM):c.2206dup (p.Tyr736fs) rs886051551
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2208T>G (p.Tyr736Ter)
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer) rs1596235791
NM_000057.4(BLM):c.2209C>A (p.Leu737Met)
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter) rs1896146578
NM_000057.4(BLM):c.2225del (p.Thr742fs)
NM_000057.4(BLM):c.2242_2255del (p.Asn748fs)
NM_000057.4(BLM):c.2268del (p.Asp757fs) rs747341586
NM_000057.4(BLM):c.227del (p.Pro76fs) rs1299272913
NM_000057.4(BLM):c.2281_2291del (p.Lys761fs) rs2151163995
NM_000057.4(BLM):c.2284del (p.Leu762fs) rs2151164000
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter) rs2151164019
NM_000057.4(BLM):c.2308-953_2555+4719del
NM_000057.4(BLM):c.230dup (p.Pro78fs)
NM_000057.4(BLM):c.2324_2325del (p.Arg775fs)
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) rs1555420844
NM_000057.4(BLM):c.2353_2354insTT (p.Glu785fs) rs1567045130
NM_000057.4(BLM):c.2385del (p.Asp795fs) rs2151165798
NM_000057.4(BLM):c.2404C>T (p.Gln802Ter) rs2151165848
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs) rs1567045235
NM_000057.4(BLM):c.2406+2T>G rs367543016
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2409G>A (p.Trp803Ter) rs1896235438
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter) rs1412341951
NM_000057.4(BLM):c.2411del (p.Gly804fs) rs2151166065
NM_000057.4(BLM):c.2420_2424del (p.Phe807fs)
NM_000057.4(BLM):c.2448del (p.Met816fs) rs1896237929
NM_000057.4(BLM):c.2449_2450insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGGCTCCCTCTCCCTCTCCCGGCGCGCGCTCGCGCTCCCGTGGCCGGGTGCCGCTCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAATGAATATGC (p.Leu817fs)
NM_000057.4(BLM):c.2456del (p.Gln819fs)
NM_000057.4(BLM):c.2493del (p.Thr832fs) rs2151166250
NM_000057.4(BLM):c.2506del (p.Arg836fs) rs1567045531
NM_000057.4(BLM):c.2510_2513dup (p.Gln838fs)
NM_000057.4(BLM):c.2539del (p.Ile847fs) rs770751979
NM_000057.4(BLM):c.2559del (p.Phe853fs) rs2151178019
NM_000057.4(BLM):c.2579del (p.His860fs) rs2151178044
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2592C>G (p.Tyr864Ter) rs1896651394
NM_000057.4(BLM):c.2594_2598del (p.Tyr865fs)
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter) rs1060503989
NM_000057.4(BLM):c.2620del (p.Val874fs)
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter) rs367543039
NM_000057.4(BLM):c.2650_2651del (p.Lys884fs) rs1596250472
NM_000057.4(BLM):c.2664T>A (p.Tyr888Ter)
NM_000057.4(BLM):c.2721dup (p.Leu908fs)
NM_000057.4(BLM):c.2725C>T (p.Gln909Ter) rs1456964727
NM_000057.4(BLM):c.2781del (p.Asp928fs)
NM_000057.4(BLM):c.2791C>T (p.Gln931Ter)
NM_000057.4(BLM):c.2791_2801del (p.Gln931fs)
NM_000057.4(BLM):c.2794C>T (p.Gln932Ter) rs2151179928
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) rs1896712163
NM_000057.4(BLM):c.2809C>T (p.Gln937Ter) rs1596252279
NM_000057.4(BLM):c.2818dup (p.Cys940fs) rs2151179952
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000057.4(BLM):c.2868_2869insTCCG (p.Asp957fs)
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) rs762354041
NM_000057.4(BLM):c.28C>T (p.Gln10Ter)
NM_000057.4(BLM):c.2900del (p.Pro967fs) rs2151184555
NM_000057.4(BLM):c.2917del (p.Tyr973fs) rs2151184585
NM_000057.4(BLM):c.2923C>T (p.Gln975Ter)
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.2926G>T (p.Glu976Ter)
NM_000057.4(BLM):c.2957del (p.Ile986fs)
NM_000057.4(BLM):c.2980del (p.Thr994fs) rs1164844135
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.2991_2995del (p.Val998fs) rs2151184718
NM_000057.4(BLM):c.299dup (p.Arg101fs)
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)
NM_000057.4(BLM):c.3011_3012del (p.Leu1004fs) rs2151184759
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs) rs1555423119
NM_000057.4(BLM):c.301_304del (p.Arg101fs) rs1489224386
NM_000057.4(BLM):c.3026_3041dup (p.His1014fs)
NM_000057.4(BLM):c.3068del (p.Leu1023fs)
NM_000057.4(BLM):c.3069del (p.Leu1023fs)
NM_000057.4(BLM):c.3079_3080del (p.Val1027fs)
NM_000057.4(BLM):c.3087C>G (p.Tyr1029Ter) rs1896974524
NM_000057.4(BLM):c.3095dup (p.Asn1032fs)
NM_000057.4(BLM):c.3102_3103delinsAT (p.Glu1035Ter)
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) rs137853153
NM_000057.4(BLM):c.3118C>T (p.Gln1040Ter)
NM_000057.4(BLM):c.311C>A (p.Ser104Ter) rs367543030
NM_000057.4(BLM):c.3125del (p.Leu1042fs) rs1896976755
NM_000057.4(BLM):c.3145G>T (p.Gly1049Ter) rs1188753950
NM_000057.4(BLM):c.3163dup (p.Cys1055fs) rs2151187381
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3171_3172insT (p.His1058fs)
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753
NM_000057.4(BLM):c.3261del (p.Phe1087fs) rs1319786857
NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter) rs367543017
NM_000057.4(BLM):c.3299del (p.Ile1100fs)
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) rs1057516253
NM_000057.4(BLM):c.3367_3368del (p.Ser1123fs) rs2151194158
NM_000057.4(BLM):c.3379C>T (p.Gln1127Ter) rs1897212605
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
NM_000057.4(BLM):c.3467del (p.Asp1156fs)
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3479dup (p.Tyr1160Ter)
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter) rs1596267627
NM_000057.4(BLM):c.3499del (p.Ala1167fs) rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3510T>A (p.Tyr1170Ter)
NM_000057.4(BLM):c.3535del (p.Thr1179fs)
NM_000057.4(BLM):c.3558+1G>A rs148969222
NM_000057.4(BLM):c.3558+2T>C rs1897222054
NM_000057.4(BLM):c.3559-3A>G
NM_000057.4(BLM):c.3564del (p.Phe1189fs) rs1486692931
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs) rs1555424372
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs) rs1567063125
NM_000057.4(BLM):c.3577_3578del (p.Glu1193fs)
NM_000057.4(BLM):c.357_358del (p.Cys120fs) rs748186908
NM_000057.4(BLM):c.3587del (p.Ser1196fs) rs367543018
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.358_359dup (p.Thr121fs)
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)
NM_000057.4(BLM):c.3611del (p.Ala1203_Leu1204insTer)
NM_000057.4(BLM):c.3616del (p.Ala1206fs) rs2151194859
NM_000057.4(BLM):c.3628C>T (p.Gln1210Ter)
NM_000057.4(BLM):c.3634G>T (p.Glu1212Ter) rs1897234496
NM_000057.4(BLM):c.3638del (p.Glu1213fs) rs1057516547
NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter) rs2151194897
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter) rs1897236255
NM_000057.4(BLM):c.3681dup (p.Ser1228fs) rs367543020
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs) rs1234064430
NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs) rs1897238597
NM_000057.4(BLM):c.3753del (p.Glu1251fs) rs1275708646
NM_000057.4(BLM):c.3755_3758del (p.Ser1252fs) rs2151198261
NM_000057.4(BLM):c.3758T>G (p.Leu1253Ter) rs2151198266
NM_000057.4(BLM):c.375_376del (p.Pro126fs) rs1895612617
NM_000057.4(BLM):c.3779T>A (p.Leu1260Ter)
NM_000057.4(BLM):c.3784C>T (p.Gln1262Ter)
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)
NM_000057.4(BLM):c.3845del (p.Leu1282fs) rs1897350204
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3854_3857del (p.Tyr1285fs) rs2151198369
NM_000057.4(BLM):c.3860_3863del (p.Glu1287fs) rs2151198382
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter) rs2151198389
NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter) rs2151198391
NM_000057.4(BLM):c.3869del (p.Ser1290fs) rs2151198402
NM_000057.4(BLM):c.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.390del (p.Lys130fs) rs2151147261
NM_000057.4(BLM):c.3960dup (p.Val1321fs) rs1567066891
NM_000057.4(BLM):c.397dup (p.Asp133fs) rs2151147279
NM_000057.4(BLM):c.3991A>T (p.Arg1331Ter)
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.4002_4003delinsAT (p.Lys1335Ter)
NM_000057.4(BLM):c.4027C>T (p.Gln1343Ter) rs2151199939
NM_000057.4(BLM):c.440_443del (p.Asp146_Ser147insTer) rs1895617043
NM_000057.4(BLM):c.461G>A (p.Trp154Ter)
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.487del (p.Ser163fs)
NM_000057.4(BLM):c.497C>G (p.Ser166Ter) rs896357448
NM_000057.4(BLM):c.511dup (p.Thr171fs)
NM_000057.4(BLM):c.522_523del (p.His176fs)
NM_000057.4(BLM):c.557C>A (p.Ser186Ter)
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035
NM_000057.4(BLM):c.566del (p.Gly189fs) rs2151147614
NM_000057.4(BLM):c.572_573del (p.Arg191fs) rs2151147628
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.582_595del (p.Phe194fs)
NM_000057.4(BLM):c.582del (p.Phe194fs) rs367543026
NM_000057.4(BLM):c.583A>T (p.Lys195Ter) rs2151147654
NM_000057.4(BLM):c.589C>T (p.Gln197Ter) rs2151147666
NM_000057.4(BLM):c.604_607del (p.Asn202fs) rs774777021
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.619del (p.Asp207fs) rs1596218981
NM_000057.4(BLM):c.623del (p.Leu208fs) rs2151147765
NM_000057.4(BLM):c.623dup (p.Leu208fs)
NM_000057.4(BLM):c.638_639del (p.Ser212_Ser213insTer)
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
NM_000057.4(BLM):c.689G>A (p.Trp230Ter) rs2151147939
NM_000057.4(BLM):c.700_710del (p.Asp234fs) rs2151147969
NM_000057.4(BLM):c.700_713del (p.Asp234fs) rs1567035745
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000057.4(BLM):c.729del (p.Ile243fs)
NM_000057.4(BLM):c.74T>G (p.Leu25Ter) rs1895534883
NM_000057.4(BLM):c.757del (p.Gln253fs) rs2151148137
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
NM_000057.4(BLM):c.760G>T (p.Glu254Ter) rs181892828
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.77_87del (p.Ser26fs)
NM_000057.4(BLM):c.789dup (p.Asp264fs) rs2151148207
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000057.4(BLM):c.811_815del (p.Lys271fs)
NM_000057.4(BLM):c.814A>T (p.Lys272Ter)
NM_000057.4(BLM):c.826del (p.Glu276fs) rs2151149553
NM_000057.4(BLM):c.829G>T (p.Glu277Ter) rs1596221020
NM_000057.4(BLM):c.835G>T (p.Glu279Ter) rs1567036566
NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer) rs1567036579
NM_000057.4(BLM):c.83C>G (p.Ser28Ter) rs2151145090
NM_000057.4(BLM):c.83del (p.Leu27_Ser28insTer) rs2151145092
NM_000057.4(BLM):c.842del (p.His281fs) rs1895692863
NM_000057.4(BLM):c.855del (p.Val286fs) rs2151149598
NM_000057.4(BLM):c.864del (p.Pro287_Cys288insTer)
NM_000057.4(BLM):c.919G>T (p.Glu307Ter) rs766386787
NM_000057.4(BLM):c.959+2T>C
NM_000057.4(BLM):c.97dup (p.Ser33fs)
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.982del (p.Ser328fs)
NM_000057.4(BLM):c.984del (p.Asp329fs) rs2151152104
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000057.4(BLM):c.993del (p.Glu332fs) rs2151152131
NM_000057.4(BLM):c.[1544dup;2468del]
NM_000057.4(BLM):c.[2265_2268dup;2441T>A]
NM_000057.4(BLM):c.[289C>T;649C>T]

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