ClinVar Miner

List of variants studied for Cockayne syndrome type 2 by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902

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