ClinVar Miner

List of variants in gene GLB1 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP
NM_000404.2(GLB1):c.[1285C>T;1097C>A]
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.*39C>T
NM_000404.4(GLB1):c.*423A>G rs79603348
NM_000404.4(GLB1):c.*44C>T
NM_000404.4(GLB1):c.1032T>C (p.Thr344=) rs199927127
NM_000404.4(GLB1):c.1052G>A (p.Arg351Gln)
NM_000404.4(GLB1):c.1069-4A>G
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu) rs727503953
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys)
NM_000404.4(GLB1):c.1095C>T (p.Ile365=)
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro) rs72555369
NM_000404.4(GLB1):c.1234-11T>A rs145674318
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp)
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) rs180869784
NM_000404.4(GLB1):c.1286C>T (p.Pro429Leu)
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.1343A>T (p.Asp448Val) rs757926581
NM_000404.4(GLB1):c.1347+10G>A rs199538100
NM_000404.4(GLB1):c.1348-3C>G
NM_000404.4(GLB1):c.1348-7C>T
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.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys) rs1553606400
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn) rs780232995
NM_000404.4(GLB1):c.1479+11C>T
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn) rs1172435886
NM_000404.4(GLB1):c.1480-8C>G rs753129246
NM_000404.4(GLB1):c.1481G>T (p.Gly494Val) rs202007119
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.1530G>A (p.Thr510=) rs191203702
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.1588C>T (p.Arg530Cys) rs371397760
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.1735-15TC[7] rs745361874
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351
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.1852G>A (p.Val618Met)
NM_000404.4(GLB1):c.188T>A (p.Phe63Tyr) rs1228819238
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys)
NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter) rs1553604682
NM_000404.4(GLB1):c.1991del (p.Pro664fs) rs1553604677
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter) rs758168173
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.2030T>G (p.Val677Gly)
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.218A>G (p.Lys73Arg)
NM_000404.4(GLB1):c.234C>T (p.Asn78=) rs368796666
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys) rs1553612220
NM_000404.4(GLB1):c.335A>C (p.His112Pro) rs753965226
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.401G>T (p.Gly134Val) rs773562141
NM_000404.4(GLB1):c.434T>C (p.Ile145Thr) rs1416369501
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) rs778700089
NM_000404.4(GLB1):c.501C>T (p.Pro167=) rs1553611799
NM_000404.4(GLB1):c.534G>A (p.Gly178=) rs928862880
NM_000404.4(GLB1):c.553-8A>G rs886058342
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.616C>T (p.Arg206Cys)
NM_000404.4(GLB1):c.623G>A (p.Arg208His) rs111840209
NM_000404.4(GLB1):c.711C>T (p.Tyr237=)
NM_000404.4(GLB1):c.734-8A>G rs398123357
NM_000404.4(GLB1):c.797A>G (p.Asn266Ser) rs1214295886
NM_000404.4(GLB1):c.827A>C (p.His276Pro) rs1559401406
NM_000404.4(GLB1):c.845C>T (p.Ser282Phe)
NM_000404.4(GLB1):c.875C>G (p.Ser292Cys)
NM_000404.4(GLB1):c.93G>A (p.Met31Ile) rs1553612598
NM_000404.4(GLB1):c.967C>G (p.Pro323Ala) rs1575445193
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596
NM_001135602.2(GLB1):c.-73C>T rs530326876

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