ClinVar Miner

List of variants in gene combination ERCC6, ERCC6-PGBD3, PGBD3 reported as uncertain significance for Cerebrooculofacioskeletal syndrome 1

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Total variants: 9
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HGVS dbSNP
NM_000124.4(ERCC6):c.1158C>A (p.Asp386Glu) rs141391984
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984
NM_000124.4(ERCC6):c.1158C>T (p.Asp386=) rs141391984
NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys) rs148295935
NM_000124.4(ERCC6):c.1229G>A (p.Gly410Asp) rs138865542
NM_000124.4(ERCC6):c.1237C>T (p.Arg413Trp)
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser) rs886047038
NM_000124.4(ERCC6):c.1379A>C (p.Tyr460Ser)
NM_000124.4(ERCC6):c.1390C>T (p.Arg464Trp) rs375995821

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