ClinVar Miner

List of variants in gene BLM studied for not provided

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Gene type:
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Total variants: 80
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HGVS dbSNP
NM_000057.2(BLM):c.1261G>A (p.Ala421Thr) rs587779879
NM_000057.2(BLM):c.1348A>G (p.Met450Val) rs200385935
NM_000057.2(BLM):c.205G>T (p.Glu69Ter) rs746195311
NM_000057.2(BLM):c.2074+5G>A rs587779880
NM_000057.2(BLM):c.2308-2A>G rs1248548542
NM_000057.2(BLM):c.2407dupT (p.Trp803Leufs) rs367543012
NM_000057.2(BLM):c.2452_2454delCGCinsGGG (p.Arg818Gly) rs587779882
NM_000057.2(BLM):c.2683T>G (p.Cys895Gly) rs587779883
NM_000057.2(BLM):c.3200G>A (p.Cys1067Tyr) rs587779885
NM_000057.2(BLM):c.3445delC (p.Leu1149Terfs) rs1555424298
NM_000057.2(BLM):c.387_389delGAA (p.Lys130del) rs587778105
NM_000057.2(BLM):c.4068G>C (p.Lys1356Asn) rs587779890
NM_000057.2(BLM):c.604A>G (p.Asn202Asp) rs587779894
NM_000057.3(BLM):c.1044G>A (p.Met348Ile) rs184657475
NM_000057.3(BLM):c.1086C>T (p.Asp362=) rs375632163
NM_000057.3(BLM):c.1097T>C (p.Ile366Thr) rs571152089
NM_000057.3(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.3(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.3(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.3(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.3(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.3(BLM):c.191A>C (p.Asp64Ala) rs140382474
NM_000057.3(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.3(BLM):c.1992C>T (p.Gly664=) rs886043359
NM_000057.3(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.3(BLM):c.2098C>T (p.Gln700Ter) rs367543028
NM_000057.3(BLM):c.2155C>T (p.Leu719Phe) rs587779881
NM_000057.3(BLM):c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs) rs113993962
NM_000057.3(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.3(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.3(BLM):c.2362C>A (p.Leu788Ile) rs149754073
NM_000057.3(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.3(BLM):c.2515A>G (p.Lys839Glu) rs201427280
NM_000057.3(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.3(BLM):c.2552A>G (p.Gln851Arg) rs1454270314
NM_000057.3(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.3(BLM):c.261G>A (p.Lys87=) rs372668612
NM_000057.3(BLM):c.2638G>C (p.Glu880Gln) rs201770808
NM_000057.3(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.3(BLM):c.2720C>T (p.Thr907Met) rs367953471
NM_000057.3(BLM):c.274A>G (p.Asn92Asp) rs200690226
NM_000057.3(BLM):c.2838A>G (p.Thr946=) rs200850440
NM_000057.3(BLM):c.2919C>T (p.Tyr973=) rs181161119
NM_000057.3(BLM):c.2923delC (p.Gln975Lysfs) rs367543014
NM_000057.3(BLM):c.3044C>T (p.Thr1015Ile) rs202196488
NM_000057.3(BLM):c.3117A>G (p.Ile1039Met) rs576199850
NM_000057.3(BLM):c.3210+2delT rs587779886
NM_000057.3(BLM):c.3211G>T (p.Asp1071Tyr) rs794727180
NM_000057.3(BLM):c.3237C>T (p.Asp1079=)
NM_000057.3(BLM):c.3239A>T (p.Asp1080Val)
NM_000057.3(BLM):c.3253G>T (p.Val1085Leu)
NM_000057.3(BLM):c.3397A>G (p.Lys1133Glu) rs145027663
NM_000057.3(BLM):c.3427G>A (p.Glu1143Lys) rs140387675
NM_000057.3(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.3(BLM):c.3637G>A (p.Glu1213Lys) rs28385142
NM_000057.3(BLM):c.3651A>T (p.Lys1217Asn) rs587779887
NM_000057.3(BLM):c.368A>G (p.Gln123Arg) rs371223446
NM_000057.3(BLM):c.3751+9A>C rs774368488
NM_000057.3(BLM):c.3751G>C (p.Glu1251Gln) rs587779888
NM_000057.3(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.3(BLM):c.3827C>T (p.Ala1276Val) rs760554566
NM_000057.3(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.3(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.3(BLM):c.3892G>A (p.Gly1298Arg) rs587779889
NM_000057.3(BLM):c.3934G>A (p.Ala1312Thr) rs527291754
NM_000057.3(BLM):c.3991A>G (p.Arg1331Gly) rs150631940
NM_000057.3(BLM):c.403G>T (p.Ala135Ser) rs373832397
NM_000057.3(BLM):c.4076+4T>G rs183176301
NM_000057.3(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000057.3(BLM):c.4112C>T (p.Thr1371Met) rs587779891
NM_000057.3(BLM):c.4126A>G (p.Ile1376Val) rs587779892
NM_000057.3(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000057.3(BLM):c.542G>T (p.Ser181Ile) rs587779893
NM_000057.3(BLM):c.696C>A (p.Ser232Arg) rs201845548
NM_000057.3(BLM):c.715G>A (p.Asp239Asn) rs200756519
NM_000057.3(BLM):c.808G>A (p.Glu270Lys) rs762053925
NM_000057.3(BLM):c.819_821delGAA (p.Lys273del) rs587779895
NM_000057.3(BLM):c.842A>C (p.His281Pro) rs202042636
NM_000057.3(BLM):c.893C>T (p.Thr298Met) rs28384991
NM_000057.3(BLM):c.968A>G (p.Lys323Arg) rs146504061

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