ClinVar Miner

List of variants in gene ERCC4 reported as benign for Xeroderma pigmentosum

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_005236.3(ERCC4):c.*2577del rs61422086
NM_005236.3(ERCC4):c.*3953del rs397778750
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) rs55761944

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