ClinVar Miner

List of variants in gene GLB1 reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 143
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HGVS dbSNP
NM_000404.4(GLB1):c.*184G>A rs143430374
NM_000404.4(GLB1):c.*376C>G rs147437116
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.105C>T (p.Asp35=)
NM_000404.4(GLB1):c.1069-4A>G
NM_000404.4(GLB1):c.1074A>G (p.Glu358=)
NM_000404.4(GLB1):c.1077A>G (p.Lys359=) rs751886625
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.1144-8C>G rs1575417836
NM_000404.4(GLB1):c.1215A>C (p.Thr405=)
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.123C>T (p.Phe41=)
NM_000404.4(GLB1):c.1257G>A (p.Arg419=)
NM_000404.4(GLB1):c.1263A>G (p.Thr421=)
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) rs180869784
NM_000404.4(GLB1):c.1293T>C (p.Pro431=)
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.1326A>G (p.Arg442=) rs953970172
NM_000404.4(GLB1):c.132T>C (p.Asp44=)
NM_000404.4(GLB1):c.1347+10G>A rs199538100
NM_000404.4(GLB1):c.1347+9C>T
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.1426C>T (p.Leu476=) rs113534264
NM_000404.4(GLB1):c.1449G>T (p.Val483=)
NM_000404.4(GLB1):c.1470C>T (p.Asn490=)
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.1495C>T (p.Leu499=)
NM_000404.4(GLB1):c.150C>T (p.Tyr50=)
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.1529C>T (p.Thr510Met) rs1803198
NM_000404.4(GLB1):c.1530G>A (p.Thr510=) rs191203702
NM_000404.4(GLB1):c.1536T>C (p.Phe512=)
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.1605T>C (p.His535=)
NM_000404.4(GLB1):c.1620C>T (p.Ala540=)
NM_000404.4(GLB1):c.1641G>A (p.Thr547=) rs370546368
NM_000404.4(GLB1):c.1650C>G (p.Ala550=)
NM_000404.4(GLB1):c.1715A>G (p.Gln572Arg) rs183126947
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.1767C>T (p.Gly589=) rs373181758
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.1830C>G (p.Thr610=) rs189054965
NM_000404.4(GLB1):c.1833G>C (p.Ser611=)
NM_000404.4(GLB1):c.1851C>T (p.Thr617=)
NM_000404.4(GLB1):c.1861C>T (p.Leu621=) rs748948967
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.1938A>G (p.Ser646=) rs201051026
NM_000404.4(GLB1):c.1950C>T (p.Tyr650=)
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.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.2007C>T (p.Asn669=)
NM_000404.4(GLB1):c.2016A>G (p.Ser672=) rs756403702
NM_000404.4(GLB1):c.2028T>C (p.His676=)
NM_000404.4(GLB1):c.2031A>G (p.Val677=)
NM_000404.4(GLB1):c.204G>T (p.Arg68=) rs1309516618
NM_000404.4(GLB1):c.229C>T (p.Leu77=)
NM_000404.4(GLB1):c.234C>T (p.Asn78=) rs368796666
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.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.397-5A>G rs375046684
NM_000404.4(GLB1):c.402A>T (p.Gly134=)
NM_000404.4(GLB1):c.450C>T (p.Ser150=)
NM_000404.4(GLB1):c.496C>T (p.Leu166=)
NM_000404.4(GLB1):c.519C>G (p.Leu173=)
NM_000404.4(GLB1):c.534G>A (p.Gly178=) rs928862880
NM_000404.4(GLB1):c.546A>G (p.Thr182=)
NM_000404.4(GLB1):c.561T>C (p.Asn187=)
NM_000404.4(GLB1):c.623G>A (p.Arg208His) rs111840209
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.708C>T (p.Leu236=)
NM_000404.4(GLB1):c.711C>T (p.Tyr237=)
NM_000404.4(GLB1):c.717G>T (p.Thr239=)
NM_000404.4(GLB1):c.733+78A>G
NM_000404.4(GLB1):c.734-10C>A
NM_000404.4(GLB1):c.734-80G>A
NM_000404.4(GLB1):c.76-4G>A
NM_000404.4(GLB1):c.76-9G>A
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+9C>A
NM_000404.4(GLB1):c.813T>C (p.Thr271=)
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.876C>G (p.Ser292=)
NM_000404.4(GLB1):c.879C>T (p.Leu293=)
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.948T>C (p.Tyr316=)
NM_000404.4(GLB1):c.955+8C>T
NM_000404.4(GLB1):c.956-6T>C
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=)

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