ClinVar Miner

List of variants in gene GLB1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.457+235A>G rs9865113 0.98130
NM_000404.4(GLB1):c.246-194A>G rs7610916 0.97490
NM_000404.4(GLB1):c.553-119A>G rs7637435 0.97005
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331 0.93112
NM_000404.4(GLB1):c.955+60A>G rs12632196 0.75289
NM_000404.4(GLB1):c.793-132T>G rs6550200 0.68532
NC_000003.12:g.33097518del rs35744352 0.48743
NM_000404.4(GLB1):c.396+122C>A rs11129543 0.47988
NM_000404.4(GLB1):c.1233+174G>T rs13093517 0.31462
NM_000404.4(GLB1):c.1347+208A>G rs4371463 0.25375
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_000404.4(GLB1):c.1734+233C>T rs62252531 0.21080
NM_000404.4(GLB1):c.956-190C>G rs34173901 0.17958
NM_000404.4(GLB1):c.1068+264G>A rs34840292 0.17566
NM_000404.4(GLB1):c.1068+217G>T rs35480293 0.17555
NM_000404.4(GLB1):c.956-118G>C rs35000357 0.16700
NM_000404.4(GLB1):c.955+144T>C rs13062239 0.12963
NM_000404.4(GLB1):c.76-4746T>C rs9827863 0.11214
NM_000404.4(GLB1):c.76-4426C>T rs9865342 0.11155
NM_000404.4(GLB1):c.458-11T>C rs34204221 0.10591
NM_000404.4(GLB1):c.457+283T>C rs9882717 0.10136
NM_000404.4(GLB1):c.457+154C>T rs9845695 0.10068
NM_000404.4(GLB1):c.1480-149T>C rs57857629 0.08553
NM_000404.4(GLB1):c.1480-320C>A rs57739080 0.08528
NM_000404.4(GLB1):c.1479+204A>G rs12054351 0.08163
NM_000404.4(GLB1):c.792+231G>A rs75764209 0.07312
NM_000404.4(GLB1):c.792+250G>C rs4493381 0.07312
NM_000404.4(GLB1):c.734-112T>C rs80059915 0.07289
NM_000404.4(GLB1):c.1069-231G>A rs73826342 0.06953
NM_000404.4(GLB1):c.793-185C>G rs77890945 0.06842
NM_000404.4(GLB1):c.1347+194G>T rs112116560 0.06822
NM_000404.4(GLB1):c.1144-256C>G rs76705613 0.06456
NM_000404.4(GLB1):c.1233+218C>T rs80045472 0.06454
NM_000404.4(GLB1):c.1234-177C>T rs55970801 0.06264
NM_000404.4(GLB1):c.734-80G>A rs75639377 0.05351
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000404.4(GLB1):c.1480-74C>G rs73826340 0.05149
NM_000404.4(GLB1):c.1480-272T>C rs75119558 0.02174
NM_000404.4(GLB1):c.1734+188C>T rs73826338 0.02054
NM_000404.4(GLB1):c.793-246A>G rs72856114 0.01967
NC_000003.12:g.33097411C>T rs148730537 0.01878
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_000404.4(GLB1):c.76-288A>G rs79293183 0.01613
NM_000404.4(GLB1):c.396+61G>A rs78669828 0.01594
NM_000404.4(GLB1):c.246-140G>A rs75415662 0.01577
NM_000404.4(GLB1):c.1480-295A>G rs9860199 0.01493
NM_000404.4(GLB1):c.955+300G>A rs140241744 0.01471
NM_000404.4(GLB1):c.734-116del rs151205825 0.01460
NM_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678 0.01441
NM_000404.4(GLB1):c.1734+169G>A rs12633200 0.01387
NM_000404.4(GLB1):c.955+206A>G rs145197254 0.01072
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NC_000003.12:g.33097543G>A rs142639978 0.00923
NM_000404.4(GLB1):c.1143+47G>A rs139907977 0.00879
NM_000404.4(GLB1):c.552+21G>A rs76275661 0.00847
NM_000404.4(GLB1):c.792+187C>G rs7610177 0.00829
NM_000404.4(GLB1):c.1234-307G>A rs149595582 0.00649
NM_000404.4(GLB1):c.756C>T (p.Phe252=) rs142326197 0.00547
NM_000404.4(GLB1):c.793-69T>C rs150255701 0.00542
NM_000404.4(GLB1):c.1068+291A>C rs570629285 0.00459
NM_000404.4(GLB1):c.245+44A>C rs190936792 0.00275
NM_000404.4(GLB1):c.1233+36A>G rs192752523 0.00272
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys) rs371397760 0.00095
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) rs72555366 0.00012
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355 0.00008
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410 0.00006
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360 0.00006
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000404.4(GLB1):c.1915G>A (p.Val639Met) rs1222326938 0.00003
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391 0.00002
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881 0.00002
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232 0.00002
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663 0.00002
NM_000404.4(GLB1):c.858C>T (p.Thr286=) rs770638519 0.00002
NM_000404.4(GLB1):c.994G>A (p.Asp332Asn) rs781658798 0.00002
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372 0.00001
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp) rs747709527 0.00001
NM_000404.4(GLB1):c.1438A>G (p.Met480Val) rs1280400930 0.00001
NM_000404.4(GLB1):c.1480-2A>G rs587776526 0.00001
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu) rs776327443 0.00001
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter) rs778375259 0.00001
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter) rs758168173 0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) rs72555393 0.00001
NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) rs28934274 0.00001
NM_000404.4(GLB1):c.397-1G>A rs398123353 0.00001
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880 0.00001
NM_000404.4(GLB1):c.1143+28G>C rs149712618
NM_000404.4(GLB1):c.1283A>G (p.Asn428Ser) rs761605000
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) rs72555367
NM_000404.4(GLB1):c.1468_1470del (p.Asn490del) rs1215113920
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.1696C>T (p.Pro566Ser) rs1057524868
NM_000404.4(GLB1):c.245+141A>T rs113835096
NM_000404.4(GLB1):c.246-252A>C rs7610931
NM_000404.4(GLB1):c.271C>A (p.Pro91Thr) rs770407340
NM_000404.4(GLB1):c.396+2T>C rs1057517738
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.457+53C>A rs116227659
NM_000404.4(GLB1):c.733+1G>A rs1041204916
NM_000404.4(GLB1):c.733+78A>G rs77452319
NM_000404.4(GLB1):c.734-99G>T rs72856120
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000404.4(GLB1):c.825T>A (p.Asp275Glu)
NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer) rs767704163
NM_000404.4(GLB1):c.902_914+17delinsAGGCAAGTATATACTTGCC rs1064794737
NM_000404.4(GLB1):c.955+123dup rs71630561
NM_000404.4(GLB1):c.955+139dup rs59740209
NM_000404.4(GLB1):c.955+142_955+143insTTTTCT rs764769471
NM_000404.4(GLB1):c.955+142_955+143insTTTTCTTTT rs764769471
NM_000404.4(GLB1):c.955+154del rs59740209
NM_000404.4(GLB1):c.955+93del rs143982364

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