List of variants in gene combination ERCC6, ERCC6-PGBD3 reported as uncertain significance for Cerebrooculofacioskeletal syndrome 1

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 18

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HGVS	dbSNP
NM_000124.4(ERCC6):c.-100A>G	rs886047041
NM_000124.4(ERCC6):c.-107A>G	rs886047042
NM_000124.4(ERCC6):c.-22G>A	rs4253006
NM_000124.4(ERCC6):c.-32G>A
NM_000124.4(ERCC6):c.-52G>A	rs550772412
NM_000124.4(ERCC6):c.-65G>A
NM_000124.4(ERCC6):c.-83G>A	rs886047040
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=)	rs764159237
NM_000124.4(ERCC6):c.384C>T (p.Asp128=)	rs146165518
NM_000124.4(ERCC6):c.423-7T>C
NM_000124.4(ERCC6):c.423-9A>C
NM_000124.4(ERCC6):c.431C>T (p.Thr144Met)
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val)	rs886047039
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe)	rs150935953
NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys)
NM_000124.4(ERCC6):c.858G>C (p.Lys286Asn)	rs143260457
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser)	rs766256094
NM_000124.4(ERCC6):c.958G>C (p.Val320Leu)

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