ClinVar Miner

List of variants in gene GLB1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
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.1561= (p.Cys521=) rs4302331 0.06888
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
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.756C>T (p.Phe252=) rs142326197 0.00547
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.1833G>A (p.Ser611=) rs201755284 0.00066
NM_000404.4(GLB1):c.1347+10G>A rs199538100 0.00028
NM_000404.4(GLB1):c.782A>G (p.Lys261Arg) rs200050465 0.00018
NM_000404.4(GLB1):c.1095C>T (p.Ile365=) rs200762972 0.00015
NM_000404.4(GLB1):c.858C>T (p.Thr286=) rs770638519 0.00002
NM_000404.4(GLB1):c.681C>T (p.Phe227=) rs780608544 0.00001
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880 0.00001
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.1584A>C (p.Gly528=)
NM_000404.4(GLB1):c.246-16GT[2]
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.733+42T>A rs886038291
NM_000404.4(GLB1):c.76-4376G>A
NM_000404.4(GLB1):c.76-4414C>T
NM_000404.4(GLB1):c.76-4429G>A
NM_000404.4(GLB1):c.76-4483G>A
NM_000404.4(GLB1):c.76-4520G>A
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000404.4(GLB1):c.915G>T (p.Leu305Phe) rs772986593

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