ClinVar Miner

List of variants in gene BLM reported as pathogenic for DNA repair disease

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 107
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HGVS dbSNP
NC_000015.10:g.(?_90747383)_(90751956_?)del
NC_000015.10:g.(?_90747383)_(90765424_?)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.(?_90754805)_(90754944_?)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_000015.10:g.90769228_90769231del
NM_000057.2(BLM):c.2308-953_2555+4719del
NM_000057.4(BLM):c.1043dup (p.Met348fs) rs1567038003
NM_000057.4(BLM):c.1129del (p.Glu377fs) rs1555419710
NM_000057.4(BLM):c.1180_1181del (p.Leu394fs)
NM_000057.4(BLM):c.1254_1255del (p.Lys418_Ser419insTer)
NM_000057.4(BLM):c.1255del (p.Ser419fs)
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964
NM_000057.4(BLM):c.1295dup (p.Pro432_Asp433insTer) rs1555419806
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833
NM_000057.4(BLM):c.1316del (p.Met439fs) rs1555419829
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter) rs730881428
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.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.1565del (p.Gly522fs)
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs)
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) rs762804291
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter) rs1596232266
NM_000057.4(BLM):c.2078del (p.Gly693fs)
NM_000057.4(BLM):c.2097C>A (p.Tyr699Ter)
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028
NM_000057.4(BLM):c.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2206dup (p.Tyr736fs) rs886051551
NM_000057.4(BLM):c.2207_2209del (p.Tyr736del) rs750667270
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer) rs1596235791
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter)
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter) rs1400231534
NM_000057.4(BLM):c.2268del (p.Asp757fs) rs747341586
NM_000057.4(BLM):c.2289_2290AT[1] (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2341_2342GA[3] (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2347_2348CT[1] (p.Leu783_Tyr784insTer)
NM_000057.4(BLM):c.2353_2354insTT (p.Glu785fs) rs1567045130
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2409G>A (p.Trp803Ter)
NM_000057.4(BLM):c.2448del (p.Met816fs)
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024
NM_000057.4(BLM):c.2506del (p.Arg836fs) rs1567045531
NM_000057.4(BLM):c.2539del (p.Ile847fs) rs770751979
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
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.2695C>T (p.Arg899Ter) rs587779884
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)
NM_000057.4(BLM):c.2809C>T (p.Gln937Ter) rs1596252279
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) rs762354041
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.296_297CA[1] (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121
NM_000057.4(BLM):c.3087C>G (p.Tyr1029Ter)
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) rs137853153
NM_000057.4(BLM):c.3125del (p.Leu1042fs)
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3261del (p.Phe1087fs) rs1319786857
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) rs1057516253
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) rs587783037
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter) rs1596267627
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs) rs1567063125
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs) rs1234064430
NM_000057.4(BLM):c.371_372AC[2] (p.Pro126fs)
NM_000057.4(BLM):c.3727dup (p.Thr1243fs) rs367543021
NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs)
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.3960dup (p.Val1321fs) rs1567066891
NM_000057.4(BLM):c.440_443del (p.Asp146_Ser147insTer)
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.497C>G (p.Ser166Ter)
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.600_603AACA[1] (p.Asn202fs) rs774777021
NM_000057.4(BLM):c.619del (p.Asp207fs) rs1596218981
NM_000057.4(BLM):c.700_713del (p.Asp234fs) rs1567035745
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000057.4(BLM):c.760G>T (p.Glu254Ter)
NM_000057.4(BLM):c.768_769CT[2] (p.Leu258fs) rs367543013
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.842del (p.His281fs)
NM_000057.4(BLM):c.98+1G>C rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524

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