ClinVar Miner

List of variants reported as likely benign for Xeroderma pigmentosum, group G by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.945C>T (p.His315=) rs34061299 0.00370
NM_000123.4(ERCC5):c.2778C>G (p.Gly926=) rs9518857 0.00270
NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=) rs148856875 0.00196
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) rs4150319 0.00158
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=) rs150791877 0.00094

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