ClinVar Miner

List of variants reported as benign for DE SANCTIS-CACCHIONE SYNDROME

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.1992+32A>G rs4253162 0.86411
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.63279
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17892
NM_000124.4(ERCC6):c.2382+33T>C rs3750749 0.10505
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.10284
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208

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