ClinVar Miner

List of variants in gene SEC23B reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala) rs143456757 0.00207
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp) rs147410912 0.00176
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu) rs142461689 0.00084
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440 0.00050
NM_006363.6(SEC23B):c.82C>T (p.Arg28Trp) rs759146033 0.00005
NM_006363.6(SEC23B):c.103G>A (p.Val35Ile) rs147576961 0.00003
NM_006363.6(SEC23B):c.1512-10G>T rs770601333 0.00002
NM_006363.6(SEC23B):c.1873C>A (p.Leu625Ile) rs368458175 0.00001
NM_006363.6(SEC23B):c.2028C>A (p.Asp676Glu) rs767325467 0.00001
NM_006363.6(SEC23B):c.2093T>A (p.Leu698Gln)
NM_006363.6(SEC23B):c.2153G>A (p.Arg718Gln) rs1443733304
NM_006363.6(SEC23B):c.2214+72A>G rs868711834
NM_006363.6(SEC23B):c.256A>G (p.Asn86Asp)
NM_006363.6(SEC23B):c.733CTT[1] (p.Leu246del)
NM_006363.6(SEC23B):c.800G>A (p.Gly267Asp) rs754057624
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)
NM_006363.6(SEC23B):c.938G>T (p.Arg313Leu)

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