ClinVar Miner

List of variants in gene ERCC6 reported by Baylor Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904 0.00004
NM_000124.4(ERCC6):c.1916A>G (p.Asp639Gly) rs367546930 0.00002
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met) rs374470147 0.00001
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs) rs1439211546
NM_000124.4(ERCC6):c.3762G>T (p.Lys1254Asn) rs1850747769

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