ClinVar Miner

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

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Total variants: 18
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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.-52G>A rs550772412
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.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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