ClinVar Miner

List of variants in gene ERCC6 reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.3659C>T (p.Thr1220Ile) rs34704611 0.00919
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_000124.4(ERCC6):c.3643G>A (p.Ala1215Thr) rs377041857 0.00003
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 0.00001
NM_000124.4(ERCC6):c.2297G>T (p.Cys766Phe) rs878853067
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208

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