ClinVar Miner

List of variants studied for Cerebrooculofacioskeletal syndrome 1 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_001277058.2(ERCC6):c.1696C>T (p.Gln566Ter) rs370101518 0.00003
NM_000124.4(ERCC6):c.2840G>A (p.Arg947Gln) rs1332662295 0.00001
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro) rs1057518910

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