ClinVar Miner

List of variants in gene BLM reported as benign

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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.3359-121_3359-120insA rs11377009 0.67736
NM_000057.4(BLM):c.3751+166A>G rs454060 0.66236
NM_000057.4(BLM):c.3874+285A>G rs436723 0.65867
NM_000057.4(BLM):c.3559-95G>A rs2301602 0.62788
NM_000057.4(BLM):c.3751+195C>T rs405610 0.37555
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_000057.4(BLM):c.3019+105G>A rs2072352 0.36650
NM_000057.4(BLM):c.3019+184T>A rs2072351 0.34438
NM_000057.4(BLM):c.3020-189G>A rs10083584 0.19533
NM_000057.4(BLM):c.4076+146A>G rs16944863 0.17647
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_000057.4(BLM):c.3020-408C>T rs28385099 0.17562
NM_000057.4(BLM):c.2663-310C>T rs28385062 0.17553
NM_000057.4(BLM):c.2824-129del rs112877330 0.16901
NM_000057.4(BLM):c.3358+32T>G rs17273842 0.16733
NM_000057.4(BLM):c.2308-50G>A rs17273206 0.16462
NM_000057.4(BLM):c.3558+185C>A rs28385139 0.15542
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_000057.4(BLM):c.1088-218A>G rs60129166 0.15460
NM_000057.4(BLM):c.2556-291T>G rs28385054 0.10736
NM_000057.4(BLM):c.-5+295G>C rs7163132 0.09851
NM_000057.4(BLM):c.-5+274G>C rs7163120 0.09814
NM_000057.4(BLM):c.4077-130G>A rs7165117 0.08834
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_000057.4(BLM):c.2193+61G>C rs28385029 0.07054
NM_000057.4(BLM):c.2193+84C>T rs17181698 0.07043
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_000057.4(BLM):c.3210+209A>G rs6496727 0.06235
NM_000057.4(BLM):c.2555+80_2555+83dup rs28385039 0.06222
NM_000057.4(BLM):c.2075-176A>G rs28385025 0.05936
NM_000057.4(BLM):c.2075-285G>C rs28385024 0.05870
NM_000057.4(BLM):c.2074+280G>A rs28385022 0.05802
NM_000057.4(BLM):c.3752-170C>T rs28385150 0.03872
NM_000057.4(BLM):c.3752-119C>T rs16944859 0.03230
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_000057.4(BLM):c.*108C>T rs28363374 0.00823
NM_000057.4(BLM):c.2824-221G>A rs28385073 0.00807
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
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.3020-66T>C rs28385101 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.2075-14T>C rs28385026 0.00240
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.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000057.4(BLM):c.-5+16G>C rs547768822 0.00150
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.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_000057.4(BLM):c.3359-13A>G rs200250931 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681 0.00051
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000057.4(BLM):c.816G>A (p.Lys272=) rs139295905 0.00038
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000057.4(BLM):c.1883-19A>C rs200507632 0.00025
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440 0.00025
NM_000057.4(BLM):c.174T>C (p.Pro58=) rs576862402 0.00023
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys) rs557057587 0.00023
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808 0.00011
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962 0.00010
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210 0.00007
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) rs184657475 0.00006
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser) rs369629509 0.00006
NM_000057.4(BLM):c.4186T>C (p.Leu1396=) rs376734461 0.00006
NM_000057.4(BLM):c.4077-5T>C rs200653178 0.00005
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280 0.00004
NM_000057.4(BLM):c.1100G>A (p.Ser367Asn) rs772176483 0.00003
NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn) rs779746222 0.00002
NM_000057.4(BLM):c.3019+17T>C rs532036885 0.00002
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg) rs368547042 0.00001
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr) rs770255643 0.00001
NM_000057.4(BLM):c.204C>T (p.Thr68=) rs199927688 0.00001
NM_000057.4(BLM):c.302G>C (p.Arg101Thr) rs781707344 0.00001
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr) rs777492549 0.00001
NM_000057.4(BLM):c.3878A>G (p.Glu1293Gly) rs746979958 0.00001
NM_000057.4(BLM):c.-4-253G>C rs2238335
NM_000057.4(BLM):c.1087+47T>C rs1299860709
NM_000057.4(BLM):c.1088-175del rs367763242
NM_000057.4(BLM):c.1088-175dup rs367763242
NM_000057.4(BLM):c.1088-216del rs60293840
NM_000057.4(BLM):c.1088-217_1088-216del rs60293840
NM_000057.4(BLM):c.1216A>G (p.Ile406Val) rs769498398
NM_000057.4(BLM):c.1220+18del
NM_000057.4(BLM):c.1221-11del
NM_000057.4(BLM):c.1317G>T (p.Met439Ile) rs1450277471
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg) rs878853553
NM_000057.4(BLM):c.1844A>G (p.Gln615Arg) rs1895978967
NM_000057.4(BLM):c.2074+12dup
NM_000057.4(BLM):c.2307+23del
NM_000057.4(BLM):c.2406+16del
NM_000057.4(BLM):c.2406+16dup rs769233210
NM_000057.4(BLM):c.2407-7del rs769184675
NM_000057.4(BLM):c.2407-9del rs747699258
NM_000057.4(BLM):c.2407-9dup rs747699258
NM_000057.4(BLM):c.2556-130C>T rs28385056
NM_000057.4(BLM):c.2603_2605delinsTAG (p.Pro868_Lys869delinsLeuGlu)
NM_000057.4(BLM):c.2603_2614delinsTAGAAAAGACT (p.Pro868fs)
NM_000057.4(BLM):c.2824-163_2824-159del rs3217055
NM_000057.4(BLM):c.3020-209dup rs200858224
NM_000057.4(BLM):c.3020-311G>T rs8027126
NM_000057.4(BLM):c.3020-3del rs1596259793
NM_000057.4(BLM):c.3210+44del rs3214113
NM_000057.4(BLM):c.3210+9del
NM_000057.4(BLM):c.3210+9dup rs1233313033
NM_000057.4(BLM):c.3752-15del
NM_000057.4(BLM):c.3948C>A (p.Asp1316Glu) rs375896520
NM_000057.4(BLM):c.400A>G (p.Thr134Ala)
NM_000057.4(BLM):c.4076+278G>A rs28385159
NM_000057.4(BLM):c.4077-59_4077-57dup rs10685387
NM_000057.4(BLM):c.4077-61_4077-59dup rs200699695
NM_000057.4(BLM):c.455A>G (p.Asn152Ser) rs749633106
NM_000057.4(BLM):c.799+7A>G rs1596219393
NM_000057.4(BLM):c.800-120T>C rs7183841
NM_000057.4(BLM):c.960-9del
NM_000057.4(BLM):c.98+11del rs2151145130

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