List of variants in gene GLB1 reported as uncertain significance for GM1 gangliosidosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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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.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.1071T>G (p.Phe357Leu)	rs727503953
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)	rs202237232
NM_000404.4(GLB1):c.1501C>G (p.Leu501Val)
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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