ClinVar Miner

List of variants in gene BLM reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 88
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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.959+187C>T rs28384993 0.04552
NM_000057.4(BLM):c.2194-147G>A rs62025115 0.01528
NM_000057.4(BLM):c.800-253A>G rs114559166 0.01287
NM_000057.4(BLM):c.1882+268A>G rs28385014 0.01273
NM_000057.4(BLM):c.2193+126T>A rs28385030 0.01123
NM_000057.4(BLM):c.2074+89A>G rs28385020 0.01110
NM_000057.4(BLM):c.3559-213T>G rs28385140 0.01092
NM_000057.4(BLM):c.2307+278C>T rs77547928 0.01009
NM_000057.4(BLM):c.99-198G>A rs116692414 0.00974
NM_000057.4(BLM):c.1088-277G>A rs187622546 0.00858
NM_000057.4(BLM):c.3020-375G>A rs28385100 0.00845
NM_000057.4(BLM):c.2663-102G>T rs28385065 0.00809
NM_000057.4(BLM):c.2824-221G>A rs28385073 0.00807
NM_000057.4(BLM):c.3359-204A>C rs28385137 0.00789
NM_000057.4(BLM):c.2823+264T>G rs138522904 0.00777
NM_000057.4(BLM):c.98+33G>T rs28384975 0.00673
NM_000057.4(BLM):c.1088-215G>A rs8042863 0.00631
NM_000057.4(BLM):c.2075-75G>A rs56263475 0.00573
NM_000057.4(BLM):c.4077-185C>T rs55821650 0.00536
NM_000057.4(BLM):c.3210+94C>T rs112173999 0.00481
NM_000057.4(BLM):c.960-283T>C rs56286662 0.00442
NM_000057.4(BLM):c.1087+180A>G rs189445793 0.00436
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.3210+106_3210+107del rs28385104 0.00383
NM_000057.4(BLM):c.3211-60C>A rs28385120 0.00380
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.1883-252A>T rs55727309 0.00363
NM_000057.4(BLM):c.2663-149T>C rs28385064 0.00352
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
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.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.2919C>T (p.Tyr973=) rs181161119 0.00066
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.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000057.4(BLM):c.780T>C (p.Thr260=) rs55763079 0.00034
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.2838A>G (p.Thr946=) rs200850440 0.00025
NM_000057.4(BLM):c.3225A>G (p.Arg1075=) rs7171673 0.00024
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738 0.00018
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272 0.00013
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962 0.00010
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940 0.00010
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336 0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856 0.00009
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675 0.00008
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) rs184657475 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.1194C>T (p.Asn398=) rs202103556 0.00005
NM_000057.4(BLM):c.4077-5T>C rs200653178 0.00005
NM_000057.4(BLM):c.201T>C (p.Val67=) rs563887813 0.00004
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280 0.00004
NM_000057.4(BLM):c.3117A>G (p.Ile1039Met) rs576199850 0.00004
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306 0.00003
NM_000057.4(BLM):c.2655C>T (p.His885=) rs1404506326 0.00002
NM_000057.4(BLM):c.395G>A (p.Arg132Gln) rs775197136 0.00002
NM_000057.4(BLM):c.894G>A (p.Thr298=) rs762144355 0.00002
NM_000057.4(BLM):c.2194-6A>G rs946104255 0.00001
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162 0.00001
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) rs151114049 0.00001
NM_000057.4(BLM):c.3867A>G (p.Thr1289=) rs759000443 0.00001
NM_000057.4(BLM):c.4119C>G (p.Ser1373=) rs1210181566 0.00001
NM_000057.4(BLM):c.417A>G (p.Leu139=) rs756759106 0.00001
NM_000057.4(BLM):c.1088-176_1088-175del rs367763242
NM_000057.4(BLM):c.1882+216A>G
NM_000057.4(BLM):c.1992C>G (p.Gly664=) rs886043359
NM_000057.4(BLM):c.2555+80C>T rs79508004
NM_000057.4(BLM):c.2940T>G (p.Ala980=) rs1596257223
NM_000057.4(BLM):c.3045A>G (p.Thr1015=) rs966206627
NM_000057.4(BLM):c.3501G>T (p.Ala1167=) rs752559933
NM_000057.4(BLM):c.387_389del (p.Lys130del) rs587778105
NM_000057.4(BLM):c.4122C>T (p.Ser1374=) rs145277875
NM_000057.4(BLM):c.81T>C (p.Leu27=) rs1596215726
NM_000057.4(BLM):c.87A>G (p.Lys29=) rs1895535691
NM_000057.4(BLM):c.906A>G (p.Pro302=) rs1596221231
NM_000057.4(BLM):c.959+248_959+249dup rs753796274
NM_000057.4(BLM):c.959+249dup rs753796274
NM_000057.4(BLM):c.98+256T>G rs28384977

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