ClinVar Miner

List of variants in gene GLB1 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331 0.93112
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_000404.4(GLB1):c.458-11T>C rs34204221 0.10591
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678 0.01441
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_000404.4(GLB1):c.552+21G>A rs76275661 0.00847
NM_000404.4(GLB1):c.1426C>T (p.Leu476=) rs113534264 0.00083
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) rs72555366 0.00012
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351 0.00003
NM_000404.4(GLB1):c.734-8A>G rs398123357 0.00003
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391 0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418 0.00002
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881 0.00002
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000404.4(GLB1):c.1479+1G>A rs1022476871 0.00001
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) rs794727165 0.00001
NM_000404.4(GLB1):c.1918G>T (p.Asp640Tyr) rs398123352 0.00001
NM_000404.4(GLB1):c.397-1G>A rs398123353 0.00001
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys) rs371546950 0.00001
NM_000404.4(GLB1):c.1004C>T (p.Ala335Val) rs398123347
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.1077del (p.Val360fs) rs727503952
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.169del (p.Tyr57fs) rs794727249
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.4(GLB1):c.385G>A (p.Glu129Lys) rs886042079
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.457+2T>C rs398123354
NM_000404.4(GLB1):c.647T>C (p.Val216Ala) rs886042815
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000404.4(GLB1):c.809A>C (p.Tyr270Ser) rs371546950
NM_000404.4(GLB1):c.901G>A (p.Ala301Thr) rs727503954

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