ClinVar Miner

List of variants reported as benign for Cockayne syndrome type A

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Total variants: 13
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NM_000082.3(ERCC8):c.*105T>C rs3117
NM_000082.3(ERCC8):c.*237T>C rs4647153
NM_000082.3(ERCC8):c.*36C>T rs4647152
NM_000082.3(ERCC8):c.*439G>T rs4647155
NM_000082.3(ERCC8):c.*519C>A rs4647157
NM_000082.3(ERCC8):c.-23T>G rs4647038
NM_000082.3(ERCC8):c.1080T>C (p.Ala360=) rs4647130
NM_000082.3(ERCC8):c.173+1158A>G rs4647068
NM_000082.3(ERCC8):c.363T>C (p.Asp121=) rs4647088
NM_000082.3(ERCC8):c.435T>C (p.Tyr145=) rs4647100
NM_000082.3(ERCC8):c.504A>G (p.Val168=) rs35366433

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