List of variants in gene BLM reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 100

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)	rs2227935	0.06742
NM_000057.4(BLM):c.419A>G (p.Glu140Gly)	rs35886055	0.00958
NM_000057.4(BLM):c.3960C>T (p.Pro1320=)	rs56009845	0.00502
NM_000057.4(BLM):c.615G>A (p.Lys205=)	rs28903082	0.00496
NM_000057.4(BLM):c.4076+4T>G	rs183176301	0.00436
NM_000057.4(BLM):c.410A>G (p.Lys137Arg)	rs28384988	0.00434
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)	rs2229035	0.00421
NM_000057.4(BLM):c.1122T>C (p.His374=)	rs28385009	0.00382
NM_000057.4(BLM):c.1722A>G (p.Leu574=)	rs28385011	0.00379
NM_000057.4(BLM):c.893C>T (p.Thr298Met)	rs28384991	0.00346
NM_000057.4(BLM):c.2160C>T (p.Ile720=)	rs28385028	0.00303
NM_000057.4(BLM):c.1928G>A (p.Arg643His)	rs12720097	0.00278
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)	rs28385141	0.00245
NM_000057.4(BLM):c.4077-10C>T	rs145310008	0.00233
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)	rs141503266	0.00213
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)	rs146077918	0.00172
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)	rs142551229	0.00140
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)	rs140524886	0.00115
NM_000057.4(BLM):c.11T>C (p.Val4Ala)	rs144706057	0.00102
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)	rs35224686	0.00092
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)	rs146504061	0.00056
NM_000057.4(BLM):c.3798T>G (p.Val1266=)	rs138831180	0.00043
NM_000057.4(BLM):c.780T>C (p.Thr260=)	rs55763079	0.00034
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)	rs145022945	0.00032
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)	rs148545569	0.00029
NM_000057.4(BLM):c.191A>T (p.Asp64Val)	rs140382474	0.00026
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	rs200389141	0.00017
NM_000057.4(BLM):c.3751+10C>T	rs199685140	0.00016
NM_000057.4(BLM):c.842A>C (p.His281Pro)	rs202042636	0.00014
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile)	rs202196488	0.00013
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)	rs139610577	0.00012
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)	rs189925962	0.00010
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)	rs373525781	0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=)	rs759223856	0.00009
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser)	rs141269464	0.00008
NM_000057.4(BLM):c.1044G>A (p.Met348Ile)	rs184657475	0.00006
NM_000057.4(BLM):c.542G>T (p.Ser181Ile)	rs587779893	0.00006
NM_000057.4(BLM):c.808G>A (p.Glu270Lys)	rs762053925	0.00006
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)	rs55880859	0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)	rs587779884	0.00004
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln)	rs748054605	0.00004
NM_000057.4(BLM):c.3210+2del	rs587779886	0.00003
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met)	rs587779891	0.00003
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe)	rs374569385	0.00002
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)	rs367543028	0.00002
NM_000057.4(BLM):c.2171T>C (p.Val724Ala)	rs750687788	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.1284G>A (p.Trp428Ter)	rs1057516964	0.00001
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu)	rs764182382	0.00001
NM_000057.4(BLM):c.1785A>T (p.Ser595=)	rs79871543	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.2490G>A (p.Thr830=)	rs765233032	0.00001
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)	rs367543024	0.00001
NM_000057.4(BLM):c.2551C>G (p.Gln851Glu)	rs767638712	0.00001
NM_000057.4(BLM):c.3020-258A>G	rs1301751251	0.00001
NM_000057.4(BLM):c.3021G>A (p.Met1007Ile)	rs1244649224	0.00001
NM_000057.4(BLM):c.3451C>T (p.Leu1151Phe)	rs1469527799	0.00001
NM_000057.4(BLM):c.3585C>T (p.Ser1195=)	rs1023322113	0.00001
NM_000057.4(BLM):c.44G>A (p.Arg15His)	rs752755503	0.00001
NM_000057.4(BLM):c.711C>T (p.Cys237=)	rs752961612	0.00001
NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup
NM_000057.3(BLM):c.4080dupG	rs2151202230
NM_000057.4(BLM):c.1009A>G (p.Thr337Ala)
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro)	rs1332024999
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)	rs1567040469
NM_000057.4(BLM):c.1346del (p.Ser449fs)	rs2151158066
NM_000057.4(BLM):c.1544del (p.Asn515fs)	rs367543043
NM_000057.4(BLM):c.1544dup (p.Asn515fs)	rs367543043
NM_000057.4(BLM):c.1592A>C (p.Lys531Thr)	rs1895966276
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)	rs1356090839
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)	rs746195311
NM_000057.4(BLM):c.2074+1G>T	rs367543036
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2193+1_2193+9del	rs1060500652
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)	rs113993962
NM_000057.4(BLM):c.2208_2212delinsGATTC (p.Tyr736_Thr738delinsTer)
NM_000057.4(BLM):c.2323A>G (p.Arg775Gly)	rs2151165680
NM_000057.4(BLM):c.234C>T (p.Pro78=)	rs970793829
NM_000057.4(BLM):c.2406+2T>G	rs367543016
NM_000057.4(BLM):c.2407dup (p.Trp803fs)	rs367543012
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr)	rs767086502
NM_000057.4(BLM):c.2580_2581del (p.His860fs)	rs864622347
NM_000057.4(BLM):c.2662+2T>C	rs1567052324
NM_000057.4(BLM):c.2690C>G (p.Ser897Cys)	rs750600011
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)	rs758311406
NM_000057.4(BLM):c.2824-1066del	rs1567055836
NM_000057.4(BLM):c.2923del (p.Gln975fs)	rs367543014
NM_000057.4(BLM):c.3005_3019del (p.Lys1002_Met1006del)
NM_000057.4(BLM):c.3047G>C (p.Arg1016Thr)	rs2151187181
NM_000057.4(BLM):c.311C>A (p.Ser104Ter)	rs367543030
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)	rs367543029
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)	rs367543033
NM_000057.4(BLM):c.380C>A (p.Thr127Asn)	rs1895613545
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)	rs367543031
NM_000057.4(BLM):c.582del (p.Phe194fs)	rs367543026
NM_000057.4(BLM):c.772_773del (p.Leu258fs)	rs367543013
NM_000057.4(BLM):c.98+1G>T	rs750293380
NM_000057.4(BLM):c.991_995del (p.Lys331fs)	rs786204524

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