ClinVar Miner

List of variants in gene ERCC4 reported as uncertain significance by Leiden Open Variation Database

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter) rs2020959 0.00001
NM_005236.3(ERCC4):c.448C>T (p.Arg150Cys) rs145402255 0.00001
NM_005236.3(ERCC4):c.1861A>G (p.Thr621Ala) rs2032331839
NM_005236.3(ERCC4):c.2291del (p.Ser764fs) rs2032549985
NM_005236.3(ERCC4):c.2357C>T (p.Ser786Phe) rs1451008479
NM_005236.3(ERCC4):c.540_541del (p.Arg180fs) rs2032079495
NM_005236.3(ERCC4):c.584+1G>A rs2032080620
NM_005236.3(ERCC4):c.800G>A (p.Arg267His) rs143479220

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