List of variants in gene GLB1 reported as uncertain significance for not provided

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)	rs180869784	0.00116
NM_000404.4(GLB1):c.623G>A (p.Arg208His)	rs111840209	0.00106
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)	rs371397760	0.00095
NM_000404.4(GLB1):c.1426C>T (p.Leu476=)	rs113534264	0.00083
NM_000404.4(GLB1):c.1915G>A (p.Val639Met)	rs1222326938	0.00003
NM_000404.4(GLB1):c.734-8A>G	rs398123357	0.00003
NM_000404.4(GLB1):c.377T>C (p.Ile126Thr)	rs1301959703	0.00002
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)	rs72555358	0.00001
NM_000404.4(GLB1):c.1918G>T (p.Asp640Tyr)	rs398123352	0.00001
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter)	rs758168173	0.00001
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)	rs398123355	0.00001
NM_000404.4(GLB1):c.944C>A (p.Ala315Asp)	rs1284882385	0.00001
NM_000404.4(GLB1):c.1068G>A (p.Lys356=)	rs794726980
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu)	rs727503953
NM_000404.4(GLB1):c.1191del (p.Ile398fs)	rs1559385898
NM_000404.4(GLB1):c.1283A>G (p.Asn428Ser)	rs761605000
NM_000404.4(GLB1):c.1501C>G (p.Leu501Val)
NM_000404.4(GLB1):c.1589G>A (p.Arg530His)	rs534898382
NM_000404.4(GLB1):c.1711A>T (p.Ile571Phe)	rs1697136753
NM_000404.4(GLB1):c.1732A>C (p.Lys578Gln)	rs758921331
NM_000404.4(GLB1):c.206T>C (p.Leu69Pro)
NM_000404.4(GLB1):c.271C>A (p.Pro91Thr)	rs770407340
NM_000404.4(GLB1):c.281G>A (p.Gly94Glu)	rs1430354883
NM_000404.4(GLB1):c.385G>A (p.Glu129Lys)	rs886042079
NM_000404.4(GLB1):c.457+3A>C	rs781194739
NM_000404.4(GLB1):c.486G>A (p.Leu162=)	rs2125543638
NM_000404.4(GLB1):c.647T>C (p.Val216Ala)	rs886042815
NM_000404.4(GLB1):c.809A>C (p.Tyr270Ser)	rs371546950
NM_000404.4(GLB1):c.825T>A (p.Asp275Glu)
NM_000404.4(GLB1):c.921G>A (p.Met307Ile)	rs1575451599
NM_000404.4(GLB1):c.977C>T (p.Ala326Val)	rs1177372214

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