List of variants in gene ERCC6 reported as benign for DE SANCTIS-CACCHIONE SYNDROME

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.1992+32A>G	rs4253162	0.85763
NM_000124.4(ERCC6):c.1821+7C>T	rs4253132	0.84443
NM_000124.4(ERCC6):c.135C>G (p.Leu45=)	rs2228524	0.62551
NM_000124.4(ERCC6):c.2382+33T>C	rs3750749	0.10128
NM_000124.4(ERCC6):c.411G>A (p.Leu137=)	rs4253013	0.09896
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)	rs4253208

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