ClinVar Miner

List of variants studied for DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Premature ovarian failure 11; Lung cancer

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713 0.00126
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met) rs142580756 0.00050
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp) rs147079519 0.00048
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653 0.00021
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975 0.00015
NM_000124.4(ERCC6):c.2081C>T (p.Pro694Leu) rs114852424 0.00012
NM_001277058.2(ERCC6):c.2741A>G (p.Gln914Arg) rs151293836 0.00005
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523 0.00003
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000124.4(ERCC6):c.2287G>A (p.Val763Ile)
NM_001277058.2(ERCC6):c.1816G>A (p.Val606Ile) rs147242124

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