ClinVar Miner

List of variants in gene combination ERCC6, ERCC6-PGBD3, PGBD3 reported as uncertain significance by Counsyl

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.1137GGAGGAAGA[1] (p.Glu382_Glu384del) rs1284316063
NM_000124.4(ERCC6):c.1211_1212insTCA (p.Leu404_Lys405insGln) rs772545860
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser) rs886047038
NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del) rs779180885
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del) rs769020754

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