ClinVar Miner

Variants in gene GLB1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
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.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_000404.4(GLB1):c.552+21G>A rs76275661 0.00847
NM_000404.4(GLB1):c.756C>T (p.Phe252=) rs142326197 0.00547
NM_000404.4(GLB1):c.792+10G>T rs79518579

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