ClinVar Miner

List of variants studied for Xeroderma pigmentosum by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_000400.4(ERCC2):c.1479+2dup rs776705174 0.00002
NM_006502.3(POLH):c.490G>T (p.Glu164Ter) rs767433001 0.00002
NM_000123.4(ERCC5):c.1173dup (p.Lys392Ter) rs1283214655

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