ClinVar Miner

List of variants in gene GLB1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 327
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HGVS dbSNP
NC_000003.12:g.(?_33097001)_(33097095_?)del
NM_000404.2(GLB1):c.245C>T rs72555393
NM_000404.2(GLB1):c.367G>A rs28934274
NM_000404.2(GLB1):c.[1285C>T;1097C>A]
NM_000404.4(GLB1):c.*182A>G rs76762176
NM_000404.4(GLB1):c.*184G>A rs143430374
NM_000404.4(GLB1):c.*194C>A rs886058340
NM_000404.4(GLB1):c.*224G>T
NM_000404.4(GLB1):c.*319G>A rs139730198
NM_000404.4(GLB1):c.*354T>C rs12167
NM_000404.4(GLB1):c.*376C>G rs147437116
NM_000404.4(GLB1):c.*39C>T
NM_000404.4(GLB1):c.*423A>G rs79603348
NM_000404.4(GLB1):c.*44C>T
NM_000404.4(GLB1):c.1008A>G (p.Pro336=)
NM_000404.4(GLB1):c.1009C>T (p.Leu337=) rs376034559
NM_000404.4(GLB1):c.1020T>C (p.Ala340=)
NM_000404.4(GLB1):c.1032T>C (p.Thr344=) rs199927127
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372
NM_000404.4(GLB1):c.1052G>A (p.Arg351Gln)
NM_000404.4(GLB1):c.105C>T (p.Asp35=)
NM_000404.4(GLB1):c.1069-4A>G
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu) rs727503953
NM_000404.4(GLB1):c.1074A>G (p.Glu358=)
NM_000404.4(GLB1):c.1077A>G (p.Lys359=) rs751886625
NM_000404.4(GLB1):c.1077del (p.Val360fs) rs727503952
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys)
NM_000404.4(GLB1):c.1092T>C (p.Pro364=) rs750932808
NM_000404.4(GLB1):c.1095C>T (p.Ile365=)
NM_000404.4(GLB1):c.1101A>G (p.Pro367=)
NM_000404.4(GLB1):c.1110A>G (p.Pro370=) rs760325133
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1144-8C>G rs1575417836
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1209C>G (p.Pro403=) rs528690108
NM_000404.4(GLB1):c.1215A>C (p.Thr405=)
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro) rs72555369
NM_000404.4(GLB1):c.1233+1G>A rs1553606984
NM_000404.4(GLB1):c.1233+8T>C rs13093698
NM_000404.4(GLB1):c.1233+91G>C
NM_000404.4(GLB1):c.1234-10T>G
NM_000404.4(GLB1):c.1234-11T>A rs145674318
NM_000404.4(GLB1):c.123C>T (p.Phe41=)
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp)
NM_000404.4(GLB1):c.1257G>A (p.Arg419=)
NM_000404.4(GLB1):c.1258A>C (p.Thr420Pro)
NM_000404.4(GLB1):c.1263A>G (p.Thr421=)
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) rs180869784
NM_000404.4(GLB1):c.1286C>T (p.Pro429Leu)
NM_000404.4(GLB1):c.1293T>C (p.Pro431=)
NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs)
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) rs72555367
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) rs780724173
NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter)
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355
NM_000404.4(GLB1):c.1326A>G (p.Arg442=) rs953970172
NM_000404.4(GLB1):c.132T>C (p.Asp44=)
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581
NM_000404.4(GLB1):c.1347+10G>A rs199538100
NM_000404.4(GLB1):c.1347+9C>T
NM_000404.4(GLB1):c.1348-3C>G
NM_000404.4(GLB1):c.1348-7C>T
NM_000404.4(GLB1):c.1356G>A (p.Gln452=) rs1360438550
NM_000404.4(GLB1):c.1368G>A (p.Glu456=)
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) rs72555359
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) rs28934886
NM_000404.4(GLB1):c.1388T>C (p.Leu463Pro)
NM_000404.4(GLB1):c.1426C>T (p.Leu476=) rs113534264
NM_000404.4(GLB1):c.1438A>G (p.Met480Val) rs1280400930
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) rs72555365
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391
NM_000404.4(GLB1):c.1449G>T (p.Val483=)
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys) rs1553606400
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358
NM_000404.4(GLB1):c.1468_1470del (p.Asn490del)
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881
NM_000404.4(GLB1):c.1470C>T (p.Asn490=)
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn) rs780232995
NM_000404.4(GLB1):c.1479+11C>T
NM_000404.4(GLB1):c.1479+1G>A rs1022476871
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn) rs1172435886
NM_000404.4(GLB1):c.1480-2A>G rs587776526
NM_000404.4(GLB1):c.1480-4G>T
NM_000404.4(GLB1):c.1480-5T>C
NM_000404.4(GLB1):c.1480-8C>G rs753129246
NM_000404.4(GLB1):c.1480-8del
NM_000404.4(GLB1):c.1481G>T (p.Gly494Val) rs202007119
NM_000404.4(GLB1):c.1495C>T (p.Leu499=)
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368
NM_000404.4(GLB1):c.149A>G (p.Tyr50Cys)
NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs) rs1553606130
NM_000404.4(GLB1):c.150C>T (p.Tyr50=)
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs) rs1553606128
NM_000404.4(GLB1):c.1511A>G (p.Asn504Ser)
NM_000404.4(GLB1):c.1512T>C (p.Asn504=)
NM_000404.4(GLB1):c.1515C>T (p.Ile505=)
NM_000404.4(GLB1):c.1518C>T (p.Leu506=) rs748176346
NM_000404.4(GLB1):c.1521G>A (p.Thr507=)
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys) rs72555363
NM_000404.4(GLB1):c.1529C>T (p.Thr510Met) rs1803198
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn) rs72555390
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) rs72555390
NM_000404.4(GLB1):c.1530G>A (p.Thr510=) rs191203702
NM_000404.4(GLB1):c.1536T>C (p.Phe512=)
NM_000404.4(GLB1):c.1561= (p.Cys521=) rs4302331
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331
NM_000404.4(GLB1):c.1561_1562inv (p.Cys521His)
NM_000404.4(GLB1):c.1562G>A (p.Cys521Tyr)
NM_000404.4(GLB1):c.1568A>G (p.His523Arg)
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp) rs147332381
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.1580G>A (p.Trp527Ter)
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys) rs371397760
NM_000404.4(GLB1):c.1593C>T (p.Asp531=)
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339
NM_000404.4(GLB1):c.1601A>G (p.His534Arg) rs770982909
NM_000404.4(GLB1):c.1603C>G (p.His535Asp) rs886058341
NM_000404.4(GLB1):c.1605T>C (p.His535=)
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter) rs1553606091
NM_000404.4(GLB1):c.1620C>T (p.Ala540=)
NM_000404.4(GLB1):c.1634dup (p.Asn545fs) rs754131566
NM_000404.4(GLB1):c.163del (p.Ile55fs) rs1575475703
NM_000404.4(GLB1):c.1641G>A (p.Thr547=) rs370546368
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu) rs776327443
NM_000404.4(GLB1):c.1650C>G (p.Ala550=)
NM_000404.4(GLB1):c.1685dup (p.Asp564fs)
NM_000404.4(GLB1):c.1697C>A (p.Pro566His) rs1575410340
NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter)
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter) rs1803200
NM_000404.4(GLB1):c.1715A>G (p.Gln572Arg) rs183126947
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179
NM_000404.4(GLB1):c.1735-10C>G rs766907320
NM_000404.4(GLB1):c.1735-10C>T
NM_000404.4(GLB1):c.1735-15TC[4]
NM_000404.4(GLB1):c.1735-15TC[5]
NM_000404.4(GLB1):c.1735-15TC[7] rs745361874
NM_000404.4(GLB1):c.1735-16_1735-9dup
NM_000404.4(GLB1):c.1735-8C>T
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter) rs778375259
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418
NM_000404.4(GLB1):c.1767C>T (p.Gly589=) rs373181758
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) rs794727165
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) rs72555371
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) rs201807974
NM_000404.4(GLB1):c.1787G>A (p.Gly596Asp)
NM_000404.4(GLB1):c.1803G>A (p.Leu601=)
NM_000404.4(GLB1):c.1812C>G (p.Pro604=)
NM_000404.4(GLB1):c.1815G>A (p.Gln605=)
NM_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678
NM_000404.4(GLB1):c.1830C>G (p.Thr610=) rs189054965
NM_000404.4(GLB1):c.1833G>A (p.Ser611=) rs201755284
NM_000404.4(GLB1):c.1833G>C (p.Ser611=)
NM_000404.4(GLB1):c.1851C>T (p.Thr617=)
NM_000404.4(GLB1):c.1852G>A (p.Val618Met)
NM_000404.4(GLB1):c.1861C>T (p.Leu621=) rs748948967
NM_000404.4(GLB1):c.188T>A (p.Phe63Tyr) rs1228819238
NM_000404.4(GLB1):c.1896A>G (p.Glu632=)
NM_000404.4(GLB1):c.1911G>A (p.Thr637=)
NM_000404.4(GLB1):c.1914C>T (p.Phe638=)
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys)
NM_000404.4(GLB1):c.1938A>G (p.Ser646=) rs201051026
NM_000404.4(GLB1):c.1950C>T (p.Tyr650=)
NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter) rs1553604682
NM_000404.4(GLB1):c.1980A>G (p.Arg660=)
NM_000404.4(GLB1):c.1983C>T (p.Leu661=)
NM_000404.4(GLB1):c.1989C>T (p.Pro663=)
NM_000404.4(GLB1):c.1991del (p.Pro664fs) rs1553604677
NM_000404.4(GLB1):c.1992A>G (p.Pro664=) rs780675073
NM_000404.4(GLB1):c.1995C>T (p.Pro665=)
NM_000404.4(GLB1):c.1998G>A (p.Pro666=) rs746939617
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter) rs758168173
NM_000404.4(GLB1):c.2006dup (p.Asn669fs)
NM_000404.4(GLB1):c.2007C>T (p.Asn669=)
NM_000404.4(GLB1):c.2007_2010del (p.Asn669fs) rs1553604656
NM_000404.4(GLB1):c.2011del (p.Asp671fs) rs1553604655
NM_000404.4(GLB1):c.2016A>G (p.Ser672=) rs756403702
NM_000404.4(GLB1):c.2028T>C (p.His676=)
NM_000404.4(GLB1):c.202C>G (p.Arg68Gly)
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) rs72555370
NM_000404.4(GLB1):c.2030T>G (p.Val677Gly)
NM_000404.4(GLB1):c.2031A>G (p.Val677=)
NM_000404.4(GLB1):c.2032T>C (p.Ter678Arg) rs1553604645
NM_000404.4(GLB1):c.2034A>C (p.Ter678Cys) rs1553604644
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881
NM_000404.4(GLB1):c.204G>T (p.Arg68=) rs1309516618
NM_000404.4(GLB1):c.218A>G (p.Lys73Arg)
NM_000404.4(GLB1):c.229C>T (p.Leu77=)
NM_000404.4(GLB1):c.234C>T (p.Asn78=) rs368796666
NM_000404.4(GLB1):c.245+1G>A rs778423653
NM_000404.4(GLB1):c.245+1G>C rs778423653
NM_000404.4(GLB1):c.247T>C (p.Tyr83His) rs72555364
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys) rs1553612220
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051
NM_000404.4(GLB1):c.302del (p.Asp101fs) rs1553612213
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681
NM_000404.4(GLB1):c.327G>A (p.Arg109=) rs751602590
NM_000404.4(GLB1):c.327G>T (p.Arg109=)
NM_000404.4(GLB1):c.335A>C (p.His112Pro) rs753965226
NM_000404.4(GLB1):c.336T>C (p.His112=)
NM_000404.4(GLB1):c.342G>A (p.Leu114=)
NM_000404.4(GLB1):c.366C>T (p.Pro122=)
NM_000404.4(GLB1):c.374A>G (p.Tyr125Cys)
NM_000404.4(GLB1):c.376A>G (p.Ile126Val) rs886058343
NM_000404.4(GLB1):c.395T>C (p.Met132Thr) rs1553612189
NM_000404.4(GLB1):c.397-1G>A rs398123353
NM_000404.4(GLB1):c.397-5A>G rs375046684
NM_000404.4(GLB1):c.401G>T (p.Gly134Val) rs773562141
NM_000404.4(GLB1):c.402A>T (p.Gly134=)
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.434T>C (p.Ile145Thr) rs1416369501
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>A (p.Arg148His) rs745864233
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) rs778700089
NM_000404.4(GLB1):c.450C>T (p.Ser150=)
NM_000404.4(GLB1):c.458-11T>C rs34204221
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410
NM_000404.4(GLB1):c.473del (p.Val158fs)
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355
NM_000404.4(GLB1):c.495_497del (p.Leu166del) rs754077128
NM_000404.4(GLB1):c.496C>T (p.Leu166=)
NM_000404.4(GLB1):c.501C>T (p.Pro167=) rs1553611799
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro) rs397515617
NM_000404.4(GLB1):c.519C>G (p.Leu173=)
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter) rs1553611789
NM_000404.4(GLB1):c.531_534del (p.Gly178fs)
NM_000404.4(GLB1):c.534G>A (p.Gly178=) rs928862880
NM_000404.4(GLB1):c.546A>G (p.Thr182=)
NM_000404.4(GLB1):c.552+2T>C rs1553611778
NM_000404.4(GLB1):c.553-1G>C rs1575459735
NM_000404.4(GLB1):c.553-8A>G rs886058342
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)
NM_000404.4(GLB1):c.561T>C (p.Asn187=)
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn) rs1553611055
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557
NM_000404.4(GLB1):c.616C>T (p.Arg206Cys)
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) rs72555366
NM_000404.4(GLB1):c.623G>A (p.Arg208His) rs111840209
NM_000404.4(GLB1):c.626del (p.His209fs) rs1553611044
NM_000404.4(GLB1):c.645_648del (p.Val216fs) rs1553611040
NM_000404.4(GLB1):c.669A>G (p.Ala223=)
NM_000404.4(GLB1):c.678A>G (p.Thr226=)
NM_000404.4(GLB1):c.681C>T (p.Phe227=)
NM_000404.4(GLB1):c.693G>C (p.Gly231=) rs754493105
NM_000404.4(GLB1):c.693G>T (p.Gly231=)
NM_000404.4(GLB1):c.694dup (p.Ala232fs) rs1553611025
NM_000404.4(GLB1):c.708C>T (p.Leu236=)
NM_000404.4(GLB1):c.711C>T (p.Tyr237=)
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232
NM_000404.4(GLB1):c.717G>T (p.Thr239=)
NM_000404.4(GLB1):c.733+1G>A rs1041204916
NM_000404.4(GLB1):c.733+2T>C
NM_000404.4(GLB1):c.733+2_733+4del rs1553611016
NM_000404.4(GLB1):c.733+78A>G
NM_000404.4(GLB1):c.734-10C>A
NM_000404.4(GLB1):c.734-112T>C
NM_000404.4(GLB1):c.734-2A>G
NM_000404.4(GLB1):c.734-80G>A
NM_000404.4(GLB1):c.734-8A>G rs398123357
NM_000404.4(GLB1):c.734-99G>T
NM_000404.4(GLB1):c.756C>T (p.Phe252=) rs142326197
NM_000404.4(GLB1):c.76-4426C>T
NM_000404.4(GLB1):c.76-4G>A
NM_000404.4(GLB1):c.76-9G>A
NM_000404.4(GLB1):c.765G>C (p.Gln255His) rs1553610553
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.780C>G (p.Pro260=) rs763307375
NM_000404.4(GLB1):c.782A>G (p.Lys261Arg)
NM_000404.4(GLB1):c.789C>G (p.Pro263=)
NM_000404.4(GLB1):c.792+10G>A
NM_000404.4(GLB1):c.792+10G>C
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000404.4(GLB1):c.792+18G>A
NM_000404.4(GLB1):c.792+9C>A
NM_000404.4(GLB1):c.793-14dup
NM_000404.4(GLB1):c.797A>G (p.Asn266Ser) rs1214295886
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785
NM_000404.4(GLB1):c.813T>C (p.Thr271=)
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) rs1559401428
NM_000404.4(GLB1):c.818G>T (p.Trp273Leu) rs72555362
NM_000404.4(GLB1):c.827A>C (p.His276Pro) rs1559401406
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663
NM_000404.4(GLB1):c.845C>T (p.Ser282Phe)
NM_000404.4(GLB1):c.846del (p.Thr283fs) rs1553610382
NM_000404.4(GLB1):c.849A>C (p.Thr283=) rs1238694687
NM_000404.4(GLB1):c.858C>T (p.Thr286=) rs770638519
NM_000404.4(GLB1):c.873C>T (p.Ser291=)
NM_000404.4(GLB1):c.875C>G (p.Ser292Cys)
NM_000404.4(GLB1):c.876C>G (p.Ser292=)
NM_000404.4(GLB1):c.879C>T (p.Leu293=)
NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer) rs767704163
NM_000404.4(GLB1):c.900_903dup (p.Ser302fs)
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880
NM_000404.4(GLB1):c.903G>A (p.Ala301=)
NM_000404.4(GLB1):c.912C>T (p.Asn304=)
NM_000404.4(GLB1):c.914+7G>C
NM_000404.4(GLB1):c.915-10T>C
NM_000404.4(GLB1):c.931G>A (p.Gly311Arg)
NM_000404.4(GLB1):c.93G>A (p.Met31Ile) rs1553612598
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) rs72555361
NM_000404.4(GLB1):c.948T>C (p.Tyr316=)
NM_000404.4(GLB1):c.955+2T>G
NM_000404.4(GLB1):c.955+60A>G rs12632196
NM_000404.4(GLB1):c.955+8C>T
NM_000404.4(GLB1):c.956-6T>C
NM_000404.4(GLB1):c.964_965del (p.Ser322fs)
NM_000404.4(GLB1):c.967C>G (p.Pro323Ala) rs1575445193
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596
NM_000404.4(GLB1):c.972T>C (p.Tyr324=)
NM_000404.4(GLB1):c.975A>G (p.Ala325=)
NM_000404.4(GLB1):c.987C>T (p.Thr329=)
NM_000404.4(GLB1):c.993C>T (p.Tyr331=)
NM_000404.4(GLB1):c.994G>A (p.Asp332Asn)
NM_001135602.2(GLB1):c.-73C>T rs530326876

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