ClinVar Miner

List of variants in gene GLB1 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355 0.00008
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln) rs780634117 0.00006
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 0.00006
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.1769G>A (p.Arg590His) rs398123351 0.00003
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) rs780724173 0.00002
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581 0.00002
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881 0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418 0.00002
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881 0.00002
NM_000404.4(GLB1):c.451G>A (p.Asp151Asn) rs375582374 0.00002
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala) rs779023917 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.1038G>T (p.Lys346Asn) rs749980306 0.00001
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp) rs747709527 0.00001
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) rs28934886 0.00001
NM_000404.4(GLB1):c.1438A>G (p.Met480Val) rs1280400930 0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000404.4(GLB1):c.1479+1G>A rs1022476871 0.00001
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368 0.00001
NM_000404.4(GLB1):c.161G>A (p.Ser54Asn) rs143423935 0.00001
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu) rs776327443 0.00001
NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter) rs1295295164 0.00001
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter) rs778375259 0.00001
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) rs72555393 0.00001
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe) rs1699791081 0.00001
NM_000404.4(GLB1):c.397-1G>A rs398123353 0.00001
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233 0.00001
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355 0.00001
NM_000404.4(GLB1):c.517C>G (p.Leu173Val) rs1303774639 0.00001
NM_000404.4(GLB1):c.569G>A (p.Gly190Asp) rs756575833 0.00001
NM_000404.4(GLB1):c.699del (p.Gln234fs) rs1452318343 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys) rs371546950 0.00001
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880 0.00001
NM_000404.4(GLB1):c.1004C>T (p.Ala335Val) rs398123347
NM_000404.4(GLB1):c.1009C>G (p.Leu337Val) rs376034559
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro) rs752177002
NM_000404.4(GLB1):c.1023_1024del (p.Asp342fs)
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1060A>G (p.Ile354Val)
NM_000404.4(GLB1):c.1071_1073delinsGG (p.Phe357fs)
NM_000404.4(GLB1):c.1122T>A (p.Tyr374Ter)
NM_000404.4(GLB1):c.1142del (p.Lys381fs) rs2125478934
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1188_1189delinsCT (p.Pro397Ser)
NM_000404.4(GLB1):c.1233+1G>A rs1553606984
NM_000404.4(GLB1):c.1234-1G>T
NM_000404.4(GLB1):c.1256G>C (p.Arg419Pro)
NM_000404.4(GLB1):c.1258A>G (p.Thr420Ala) rs200181401
NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs) rs1697335361
NM_000404.4(GLB1):c.130G>T (p.Asp44Tyr)
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter) rs1697334156
NM_000404.4(GLB1):c.1347+1G>A
NM_000404.4(GLB1):c.1347+1G>T
NM_000404.4(GLB1):c.1379_1380del (p.Val460fs)
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.1465_1466del (p.Ile489fs) rs2125466937
NM_000404.4(GLB1):c.1468_1470del (p.Asn490del) rs1215113920
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn) rs1172435886
NM_000404.4(GLB1):c.148T>C (p.Tyr50His)
NM_000404.4(GLB1):c.1498A>T (p.Thr500Ser)
NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs) rs1553606130
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs) rs1553606128
NM_000404.4(GLB1):c.151A>C (p.Ile51Leu)
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter) rs1553606091
NM_000404.4(GLB1):c.160A>G (p.Ser54Gly)
NM_000404.4(GLB1):c.1634dup (p.Asn545fs) rs754131566
NM_000404.4(GLB1):c.1645C>T (p.Pro549Ser) rs2125463133
NM_000404.4(GLB1):c.1660G>A (p.Gly554Arg)
NM_000404.4(GLB1):c.1667T>C (p.Phe556Ser)
NM_000404.4(GLB1):c.1685dup (p.Asp564fs) rs1697138071
NM_000404.4(GLB1):c.1696C>T (p.Pro566Ser) rs1057524868
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter) rs1803200
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.4(GLB1):c.1739A>G (p.Gln580Arg) rs2125442981
NM_000404.4(GLB1):c.1742T>G (p.Val581Gly)
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.1768C>G (p.Arg590Gly)
NM_000404.4(GLB1):c.176G>T (p.Arg59Leu) rs72555392
NM_000404.4(GLB1):c.1771T>C (p.Tyr591His)
NM_000404.4(GLB1):c.1772A>C (p.Tyr591Ser) rs72555371
NM_000404.4(GLB1):c.1784G>C (p.Arg595Pro) rs199694629
NM_000404.4(GLB1):c.1837_1838del (p.Pro613fs) rs1696345066
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys) rs759483184
NM_000404.4(GLB1):c.2009_2010del (p.Lys670fs)
NM_000404.4(GLB1):c.202C>G (p.Arg68Gly) rs72555370
NM_000404.4(GLB1):c.203G>T (p.Arg68Leu) rs572237881
NM_000404.4(GLB1):c.230_231del (p.Leu77fs)
NM_000404.4(GLB1):c.245+1G>C rs778423653
NM_000404.4(GLB1):c.246-17_246-3del rs2125548864
NM_000404.4(GLB1):c.253C>T (p.Pro85Ser)
NM_000404.4(GLB1):c.302del (p.Asp101fs) rs1553612213
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu) rs397515616
NM_000404.4(GLB1):c.385G>C (p.Glu129Gln) rs886042079
NM_000404.4(GLB1):c.395T>C (p.Met132Thr) rs1553612189
NM_000404.4(GLB1):c.396+2T>C rs1057517738
NM_000404.4(GLB1):c.407C>T (p.Pro136Leu) rs1575471281
NM_000404.4(GLB1):c.416T>A (p.Leu139Gln) rs1699766499
NM_000404.4(GLB1):c.425_426del (p.Lys142fs) rs1553612150
NM_000404.4(GLB1):c.433_437del (p.Ile145fs) rs1553612145
NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del) rs751033858
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe) rs1553612143
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.443G>T (p.Arg148Leu)
NM_000404.4(GLB1):c.457+2T>C rs398123354
NM_000404.4(GLB1):c.487_488del (p.Gly163fs)
NM_000404.4(GLB1):c.500_501del (p.Pro167fs)
NM_000404.4(GLB1):c.517C>T (p.Leu173Phe)
NM_000404.4(GLB1):c.520T>G (p.Tyr174Asp)
NM_000404.4(GLB1):c.521A>C (p.Tyr174Ser) rs2125543580
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter) rs1553611789
NM_000404.4(GLB1):c.552+2T>C rs1553611778
NM_000404.4(GLB1):c.553-2A>T rs2125533195
NM_000404.4(GLB1):c.569G>T (p.Gly190Val)
NM_000404.4(GLB1):c.572G>C (p.Ser191Thr)
NM_000404.4(GLB1):c.572G>T (p.Ser191Ile)
NM_000404.4(GLB1):c.626del (p.His209fs) rs1553611044
NM_000404.4(GLB1):c.645_648del (p.Val216fs) rs1553611040
NM_000404.4(GLB1):c.694dup (p.Ala232fs) rs1553611025
NM_000404.4(GLB1):c.733+1G>A rs1041204916
NM_000404.4(GLB1):c.733+2T>C rs1699291583
NM_000404.4(GLB1):c.733+2_733+4del rs1553611016
NM_000404.4(GLB1):c.76-1G>T
NM_000404.4(GLB1):c.765G>C (p.Gln255His) rs1553610553
NM_000404.4(GLB1):c.765G>T (p.Gln255His)
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.775G>T (p.Glu259Ter) rs1699086565
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) rs1559401428
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter) rs1378338444
NM_000404.4(GLB1):c.827A>C (p.His276Pro) rs1559401406
NM_000404.4(GLB1):c.835del (p.Gln279fs)
NM_000404.4(GLB1):c.842A>G (p.His281Arg)
NM_000404.4(GLB1):c.901G>A (p.Ala301Thr) rs727503954
NM_000404.4(GLB1):c.902_914+17delinsAGGCAAGTATATACTTGCC rs1064794737
NM_000404.4(GLB1):c.915-1G>T rs749020375
NM_000404.4(GLB1):c.915-2A>G
NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter) rs1699002261
NM_000404.4(GLB1):c.932G>A (p.Gly311Glu)
NM_000404.4(GLB1):c.937A>G (p.Asn313Asp)
NM_000404.4(GLB1):c.941T>G (p.Phe314Cys) rs1699001242
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) rs72555361
NM_000404.4(GLB1):c.950G>A (p.Trp317Ter) rs1575451526
NM_000404.4(GLB1):c.955+2T>G rs746883447
NM_000404.4(GLB1):c.958G>A (p.Ala320Thr) rs1698735097
NM_000404.4(GLB1):c.971A>C (p.Tyr324Ser)
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596
NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys) rs370107958
Single allele

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