ClinVar Miner

List of variants in gene SEC23B reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.1233+9A>G rs6081189 0.91788
NM_006363.6(SEC23B):c.1744-20T>A rs3736775 0.33572
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526 0.12707
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu) rs17807673 0.10334
NM_006363.6(SEC23B):c.1405-7C>T rs2273525 0.09089
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532 0.03235
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=) rs147036760 0.00699
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440 0.00050
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys) rs727504145 0.00004
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter) rs199939108 0.00002
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val) rs398124225 0.00001
NM_006363.6(SEC23B):c.742G>A (p.Glu248Lys) rs398124227 0.00001
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840 0.00001
NM_006363.6(SEC23B):c.*9_*10del rs142180765

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