List of variants in gene ERCC2 reported as likely benign for ectodermal dysplasia 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_000400.4(ERCC2):c.1632C>T (p.Tyr544=)	rs147605089	0.00146
NM_000400.4(ERCC2):c.1737C>T (p.Val579=)	rs3916876	0.00096
NM_000400.4(ERCC2):c.1317C>T (p.Asp439=)	rs200588470	0.00013
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=)	rs199551160	0.00006
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr)	rs201382232	0.00004
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly)	rs571718677	0.00001

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