ClinVar Miner

List of variants in gene BLM reported as pathogenic by Invitae

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Gene type:
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Total variants: 52
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HGVS dbSNP
NC_000015.9:g.(?_91290613)_(91295186_?)del
NC_000015.9:g.(?_91290613)_(91308654_?)del
NC_000015.9:g.(?_91298035)_(91298174_?)del
NC_000015.9:g.(?_91333873)_(91334080_?)del
NC_000015.9:g.(?_91354425)_(91354646_?)del
NM_000057.4(BLM):c.1129del (p.Glu377fs) rs1555419710
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.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.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1546G>T (p.Glu516Ter)
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.2098C>T (p.Gln700Ter) rs367543028
NM_000057.4(BLM):c.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer)
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471
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.2353_2354insTT (p.Glu785fs) rs1567045130
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.2695C>T (p.Arg899Ter) rs587779884
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.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3261del (p.Phe1087fs) rs1319786857
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) rs587783037
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter)
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.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3960dup (p.Val1321fs) rs1567066891
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035
NM_000057.4(BLM):c.600_603AACA[1] (p.Asn202fs)
NM_000057.4(BLM):c.619del (p.Asp207fs)
NM_000057.4(BLM):c.709del (p.Cys237fs)
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.991_995del (p.Lys331fs) rs786204524

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