ClinVar Miner

List of variants in gene GLB1 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.*319G>A rs139730198 0.00851
NM_000404.4(GLB1):c.*423A>G rs79603348 0.00153
NM_000404.4(GLB1):c.1032T>C (p.Thr344=) rs199927127 0.00145
NM_000404.4(GLB1):c.623G>A (p.Arg208His) rs111840209 0.00106
NM_000404.4(GLB1):c.1426C>T (p.Leu476=) rs113534264 0.00083
NM_000404.4(GLB1):c.1347+10G>A rs199538100 0.00028
NM_000404.4(GLB1):c.1530G>A (p.Thr510=) rs191203702 0.00025
NM_000404.4(GLB1):c.234C>T (p.Asn78=) rs368796666 0.00023
NM_000404.4(GLB1):c.1234-11T>A rs145674318 0.00020
NM_000404.4(GLB1):c.1095C>T (p.Ile365=) rs200762972 0.00015
NM_000404.4(GLB1):c.1479+11C>T rs369789589 0.00015
NM_000404.4(GLB1):c.1562G>A (p.Cys521Tyr) rs186781398 0.00011
NM_000404.4(GLB1):c.1480-8C>G rs753129246 0.00010
NM_000404.4(GLB1):c.1529C>T (p.Thr510Met) rs1803198 0.00010
NM_000404.4(GLB1):c.1601A>G (p.His534Arg) rs770982909 0.00008
NM_000404.4(GLB1):c.*44C>T rs199659949 0.00006
NM_000404.4(GLB1):c.616C>T (p.Arg206Cys) rs766214522 0.00006
NM_000404.4(GLB1):c.1069-4A>G rs781267265 0.00005
NM_000404.4(GLB1):c.*224G>T rs557844974 0.00004
NM_000404.4(GLB1):c.1348-7C>T rs774732235 0.00004
NM_000404.4(GLB1):c.2016A>G (p.Ser672=) rs756403702 0.00003
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581 0.00002
NM_000404.4(GLB1):c.1568A>G (p.His523Arg) rs1175119240 0.00002
NM_000404.4(GLB1):c.534G>A (p.Gly178=) rs928862880 0.00001
NM_000404.4(GLB1):c.553-8A>G rs886058342 0.00001
NM_000404.4(GLB1):c.*194C>A rs886058340
NM_000404.4(GLB1):c.*39C>T rs1696328310
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.1603C>G (p.His535Asp) rs886058341
NM_000404.4(GLB1):c.1735-15TC[7] rs745361874
NM_000404.4(GLB1):c.374A>G (p.Tyr125Cys) rs767916019
NM_000404.4(GLB1):c.376A>G (p.Ile126Val) rs886058343
NM_000404.4(GLB1):c.711C>T (p.Tyr237=) rs757982518

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