ClinVar Miner

List of variants studied for Cerebrooculofacioskeletal syndrome 1 by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.1004del (p.Leu335fs) rs1554793305
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) rs1564430115
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173

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