List of variants in gene ERCC6, PGBD3 studied for Cerebrooculofacioskeletal syndrome 1

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)	rs2228528	0.17598
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)	rs4253046	0.00188
NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys)	rs148295935	0.00081
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)	rs141391984	0.00070
NM_000124.4(ERCC6):c.1229G>A (p.Gly410Asp)	rs138865542	0.00010
NM_000124.4(ERCC6):c.1237C>T (p.Arg413Trp)	rs374490261	0.00003
NM_001277058.2(ERCC6):c.1696C>T (p.Gln566Ter)	rs370101518	0.00003
NM_000124.4(ERCC6):c.1390C>T (p.Arg464Trp)	rs375995821	0.00002
NM_000124.4(ERCC6):c.1379A>C (p.Tyr460Ser)	rs140135643	0.00001
NM_000124.4(ERCC6):c.1158C>A (p.Asp386Glu)	rs141391984
NM_000124.4(ERCC6):c.1158C>T (p.Asp386=)	rs141391984
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser)	rs886047038

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