List of variants in gene ERCC6, PGBD3 studied for DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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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.1281C>T (p.Phe427=)	rs267602508
NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del)	rs779180885
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del)	rs769020754
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	rs121917902
NM_000124.4(ERCC6):c.1397+1G>C	rs1554793174

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