List of variants in gene ERCC6 reported as pathogenic for COFS syndrome

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 10

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HGVS	dbSNP
ERCC6, 2-BP DEL, 3794AA
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)	rs376526037
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)	rs121917904
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	rs121917901
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val)
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter)	rs1554787509
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)	rs751448793
NM_000124.4(ERCC6):c.2830-2A>G	rs373227647
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro)	rs121917905
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)	rs185142838

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