ClinVar Miner

List of variants in gene BLM reported by Integrated Genetics/Laboratory Corporation of America

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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) rs184657475
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964
NM_000057.4(BLM):c.1544del (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
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.2371C>T (p.Arg791Cys) rs55880859
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.4(BLM):c.2824-1066del rs1567055836
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3210+2del rs587779886
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3585C>T (p.Ser1195=) rs1023322113
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.4(BLM):c.3751+10C>T rs199685140
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000057.4(BLM):c.44G>A (p.Arg15His) rs752755503
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082
NM_000057.4(BLM):c.768_769CT[2] (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.780T>C (p.Thr260=) rs55763079
NM_000057.4(BLM):c.808G>A (p.Glu270Lys) rs762053925
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524

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