ClinVar Miner

List of variants in gene BLM reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 433
Download table as spreadsheet
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 0.00005
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) rs587783037 0.00003
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.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter) rs1897349804 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.1154del (p.Thr385fs) rs1409782833 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.2093_2096dup (p.Tyr699Ter) rs753973474 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.3177del (p.Asp1060fs) rs2505525644 0.00001
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753 0.00001
NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter) rs1472603091 0.00001
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) rs1057516253 0.00001
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033 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.3751G>C (p.Glu1251Gln) rs587779888 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000057.4(BLM):c.511dup (p.Thr171fs) rs2505392993 0.00001
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035 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.1025dup (p.Leu342fs) rs2505406989
NM_000057.4(BLM):c.1043dup (p.Met348fs) rs1567038003
NM_000057.4(BLM):c.1051C>T (p.Gln351Ter) rs2151152283
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) rs2151157127
NM_000057.4(BLM):c.1093_1096del (p.Arg364_Gln365insTer) rs2151157115
NM_000057.4(BLM):c.1108C>T (p.Gln370Ter) rs1895931425
NM_000057.4(BLM):c.1129del (p.Glu377fs) rs1555419710
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) rs538728271
NM_000057.4(BLM):c.1204dup (p.Gln402fs) rs2505422461
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) rs2505423919
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter) rs887921909
NM_000057.4(BLM):c.1237_1240del (p.Thr412_Glu413insTer) rs2505423950
NM_000057.4(BLM):c.1237_1243delinsTAC (p.Glu413fs)
NM_000057.4(BLM):c.124_127del (p.Ser42fs) rs2505390165
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.1255dup (p.Ser419fs) rs1895946786
NM_000057.4(BLM):c.1289_1290insAT (p.Tyr430Ter) rs749512704
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter) rs766861351
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.1366dup (p.Ser456fs)
NM_000057.4(BLM):c.1367C>A (p.Ser456Ter)
NM_000057.4(BLM):c.1374del (p.Ser460fs) rs2505425143
NM_000057.4(BLM):c.1385del (p.Ser462fs) rs730881429
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) rs2505425468
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs) rs1555419873
NM_000057.4(BLM):c.1430_1431del (p.Thr477fs) rs2505425503
NM_000057.4(BLM):c.1440dup (p.Ala481fs) rs1596229894
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter) rs2505425763
NM_000057.4(BLM):c.1462G>T (p.Glu488Ter) rs1477193473
NM_000057.4(BLM):c.1469_1470dup (p.Phe492fs) rs2505426263
NM_000057.4(BLM):c.1469del (p.Pro490fs) rs2505426240
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.1500del (p.Phe500fs) rs1555419889
NM_000057.4(BLM):c.1515G>A (p.Trp505Ter) rs1286401716
NM_000057.4(BLM):c.1535dup (p.Asn515fs) rs2151158428
NM_000057.4(BLM):c.1537A>T (p.Lys513Ter) rs1412833703
NM_000057.4(BLM):c.1544del (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1545del (p.Asn515fs) rs2505426939
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) rs2505427409
NM_000057.4(BLM):c.1622del (p.Asn541fs) rs2505427549
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.1633del (p.Arg545fs) rs2505427648
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.1700G>A (p.Trp567Ter) rs2505428176
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.1728_1731del (p.Ser577fs)
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) rs2505428800
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs) rs1057516956
NM_000057.4(BLM):c.1765del (p.Glu589fs) rs2505428836
NM_000057.4(BLM):c.1784C>A (p.Ser595Ter)
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) rs2151159026
NM_000057.4(BLM):c.1817_1818insGT (p.Asp606fs) rs1895977771
NM_000057.4(BLM):c.1820_1821insCTTCCAGTGTCTGGAAGTAGATGACACT (p.Leu608fs) rs2151159067
NM_000057.4(BLM):c.1820_1823del (p.Cys607fs) rs2505429412
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter) rs1895978539
NM_000057.4(BLM):c.1832C>G (p.Ser611Ter) rs1895978539
NM_000057.4(BLM):c.1864_1865del (p.Ser622fs) rs2151159180
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter) rs2505429817
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter) rs2151160492
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter) rs746857727
NM_000057.4(BLM):c.1921del (p.His641fs) rs2505434577
NM_000057.4(BLM):c.1925del (p.Glu642fs) rs2505434603
NM_000057.4(BLM):c.1928del (p.Arg643fs) rs2151160567
NM_000057.4(BLM):c.196_197insCTCTTTTCTAAGGAAGGCAAAACAAAAGCATTTAAAAACTAATTTAATTAAGGTTAAAAATTCATCTGCCGCTGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATAAAGATGTTA (p.Asn66delinsThrLeuPheTer) rs2505390555
NM_000057.4(BLM):c.1977del (p.His660fs) rs2505434937
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) rs2505435127
NM_000057.4(BLM):c.2054_2055del (p.Cys685fs) rs2505435325
NM_000057.4(BLM):c.205G>T (p.Glu69Ter) rs746195311
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) rs2505440995
NM_000057.4(BLM):c.2086_2087del (p.Ser696fs) rs2505441027
NM_000057.4(BLM):c.2093_2094del (p.Cys698fs)
NM_000057.4(BLM):c.2097C>A (p.Tyr699Ter) rs1896092339
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs) rs2505441268
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.2164del (p.Asp722fs) rs2505441711
NM_000057.4(BLM):c.2167C>T (p.Gln723Ter) rs2151162501
NM_000057.4(BLM):c.2186_2187del (p.Ser729fs) rs2505441930
NM_000057.4(BLM):c.2187del (p.Leu730fs) rs2505441922
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_2208delinsTAG (p.Tyr736fs)
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2208T>G (p.Tyr736Ter) rs865899765
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer) rs1596235791
NM_000057.4(BLM):c.2209C>A (p.Leu737Met) rs901867383
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter) rs1896146578
NM_000057.4(BLM):c.2225del (p.Thr742fs) rs2505446827
NM_000057.4(BLM):c.2242_2255del (p.Asn748fs) rs2505447070
NM_000057.4(BLM):c.2243del (p.Asn748fs) rs2505447089
NM_000057.4(BLM):c.2261C>G (p.Ser754Ter) rs2505447254
NM_000057.4(BLM):c.2267_2268del (p.Lys756fs)
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.2283del (p.Lys761fs)
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.2308-2A>G rs1248548542
NM_000057.4(BLM):c.2308-953_2555+4719del
NM_000057.4(BLM):c.230dup (p.Pro78fs) rs2505390889
NM_000057.4(BLM):c.2323A>T (p.Arg775Ter)
NM_000057.4(BLM):c.2324_2325del (p.Arg775fs) rs2505454170
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) rs2505456377
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) rs2505456660
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) rs2505457118
NM_000057.4(BLM):c.2539del (p.Ile847fs) rs770751979
NM_000057.4(BLM):c.253del (p.Arg85fs)
NM_000057.4(BLM):c.2559del (p.Phe853fs) rs2151178019
NM_000057.4(BLM):c.256_262dup (p.Asp88fs)
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) rs2505495374
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter) rs1060503989
NM_000057.4(BLM):c.2620del (p.Val874fs) rs2505495592
NM_000057.4(BLM):c.262del (p.Asp88fs)
NM_000057.4(BLM):c.2630_2633del (p.Asp877fs) rs2505495637
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) rs2505501205
NM_000057.4(BLM):c.267_271delinsTTTT (p.Asn92fs)
NM_000057.4(BLM):c.2680del (p.Tyr894fs) rs1896706358
NM_000057.4(BLM):c.2721dup (p.Leu908fs) rs2505501577
NM_000057.4(BLM):c.2725C>T (p.Gln909Ter) rs1456964727
NM_000057.4(BLM):c.2781del (p.Asp928fs) rs779027186
NM_000057.4(BLM):c.2791C>T (p.Gln931Ter) rs1471344734
NM_000057.4(BLM):c.2791_2801del (p.Gln931fs) rs2505502113
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.2839dup (p.Ile947fs)
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000057.4(BLM):c.2868_2869insTCCG (p.Asp957fs) rs2505516147
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) rs762354041
NM_000057.4(BLM):c.28C>T (p.Gln10Ter) rs776826506
NM_000057.4(BLM):c.2900del (p.Pro967fs) rs2151184555
NM_000057.4(BLM):c.2909_2910del (p.Val970fs)
NM_000057.4(BLM):c.2917del (p.Tyr973fs) rs2151184585
NM_000057.4(BLM):c.2923C>T (p.Gln975Ter) rs757148522
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.2926G>T (p.Glu976Ter) rs780890722
NM_000057.4(BLM):c.2957del (p.Ile986fs) rs2505516720
NM_000057.4(BLM):c.2965del (p.Cys989fs)
NM_000057.4(BLM):c.2971del (p.Leu991fs)
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) rs768777000
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter) rs2505517110
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.3022del (p.Glu1008fs) rs1057516719
NM_000057.4(BLM):c.3026_3041dup (p.His1014fs) rs2505524498
NM_000057.4(BLM):c.3055_3058del (p.His1019fs) rs1596259860
NM_000057.4(BLM):c.3068del (p.Leu1023fs) rs2505524778
NM_000057.4(BLM):c.3069del (p.Leu1023fs) rs2505524806
NM_000057.4(BLM):c.3079_3080del (p.Val1027fs) rs2505524868
NM_000057.4(BLM):c.3087C>G (p.Tyr1029Ter) rs1896974524
NM_000057.4(BLM):c.3090T>A (p.Cys1030Ter) rs2505525001
NM_000057.4(BLM):c.3095dup (p.Asn1032fs) rs2505525020
NM_000057.4(BLM):c.3101del (p.Thr1034fs) rs2505525096
NM_000057.4(BLM):c.3102_3103delinsAT (p.Glu1035Ter) rs2505525112
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) rs137853153
NM_000057.4(BLM):c.3118C>T (p.Gln1040Ter) rs2151187323
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) rs2505525604
NM_000057.4(BLM):c.3199_3202dup (p.Lys1068delinsMetTer) rs2505525752
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3220_3221insG (p.Thr1074fs) rs2505534228
NM_000057.4(BLM):c.3251_3255del (p.Ile1084fs)
NM_000057.4(BLM):c.3254dup (p.Arg1086fs) rs2505534508
NM_000057.4(BLM):c.3261del (p.Phe1087fs) rs1319786857
NM_000057.4(BLM):c.3265C>T (p.Gln1089Ter)
NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter) rs367543017
NM_000057.4(BLM):c.3299del (p.Ile1100fs) rs2505534802
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.3421delinsTTTTT (p.Asn1141fs) rs2505546989
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer) rs770592505
NM_000057.4(BLM):c.3445_3450delinsT (p.Leu1149fs) rs2505547150
NM_000057.4(BLM):c.3467del (p.Asp1156fs) rs2505547324
NM_000057.4(BLM):c.3479dup (p.Tyr1160Ter)
NM_000057.4(BLM):c.3480del (p.Leu1159_Tyr1160insTer) rs2505547402
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) rs771325448
NM_000057.4(BLM):c.3532C>T (p.Gln1178Ter)
NM_000057.4(BLM):c.3535del (p.Thr1179fs) rs1567062835
NM_000057.4(BLM):c.3538_3539del (p.Val1180fs) rs2505547850
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 rs766474320
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) rs1261315093
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) rs2505391788
NM_000057.4(BLM):c.3600del (p.Lys1200fs) rs1897233241
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter) rs2505549800
NM_000057.4(BLM):c.3611del (p.Ala1203_Leu1204insTer) rs2505549793
NM_000057.4(BLM):c.3616del (p.Ala1206fs) rs2151194859
NM_000057.4(BLM):c.3628C>T (p.Gln1210Ter) rs2505549921
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.3679A>T (p.Lys1227Ter) rs1596268270
NM_000057.4(BLM):c.3681dup (p.Ser1228fs) rs367543020
NM_000057.4(BLM):c.3686_3687del (p.Leu1229fs)
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) rs2505561427
NM_000057.4(BLM):c.3784C>T (p.Gln1262Ter) rs2151198294
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.3859G>T (p.Glu1287Ter) rs2505561874
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.3891del (p.Gly1298_Ile1299insTer) rs2505566477
NM_000057.4(BLM):c.390del (p.Lys130fs) rs2151147261
NM_000057.4(BLM):c.3960dup (p.Val1321fs) rs1567066891
NM_000057.4(BLM):c.397del (p.Asp133fs) rs2151147279
NM_000057.4(BLM):c.397dup (p.Asp133fs) rs2151147279
NM_000057.4(BLM):c.3991A>T (p.Arg1331Ter) rs150631940
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.4002_4003delinsAT (p.Lys1335Ter) rs2505567330
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.447del (p.Ser149fs) rs2505392471
NM_000057.4(BLM):c.461G>A (p.Trp154Ter) rs2505392601
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.487del (p.Ser163fs) rs2505392796
NM_000057.4(BLM):c.497C>G (p.Ser166Ter) rs896357448
NM_000057.4(BLM):c.50C>G (p.Ser17Ter)
NM_000057.4(BLM):c.522_523del (p.His176fs) rs2505393108
NM_000057.4(BLM):c.543del (p.Ser181fs) rs1555418380
NM_000057.4(BLM):c.557C>A (p.Ser186Ter) rs1342383599
NM_000057.4(BLM):c.557C>G (p.Ser186Ter)
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) rs2505393476
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) rs2151147765
NM_000057.4(BLM):c.627_628del (p.Pro210fs)
NM_000057.4(BLM):c.638_639del (p.Ser212_Ser213insTer) rs2505393905
NM_000057.4(BLM):c.646G>T (p.Glu216Ter) rs779934502
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.722del (p.Gly241fs) rs2505394597
NM_000057.4(BLM):c.729del (p.Ile243fs) rs2505394659
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) rs2505385125
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) rs2505385147
NM_000057.4(BLM):c.789dup (p.Asp264fs) rs2151148207
NM_000057.4(BLM):c.794_798del (p.Glu265fs)
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000057.4(BLM):c.811_815del (p.Lys271fs) rs2505399512
NM_000057.4(BLM):c.814A>T (p.Lys272Ter) rs1895691198
NM_000057.4(BLM):c.826G>T (p.Glu276Ter) rs2505399652
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) rs2505399914
NM_000057.4(BLM):c.910del (p.Ser304fs) rs2505400284
NM_000057.4(BLM):c.919G>T (p.Glu307Ter) rs766386787
NM_000057.4(BLM):c.91A>T (p.Lys31Ter)
NM_000057.4(BLM):c.942del (p.Ser315fs) rs1555418701
NM_000057.4(BLM):c.959+2T>C rs2505400736
NM_000057.4(BLM):c.97dup (p.Ser33fs) rs2505385265
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) rs2505406729
NM_000057.4(BLM):c.984del (p.Asp329fs) rs2151152104
NM_000057.4(BLM):c.99-1G>T rs897262346
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]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.