ClinVar Miner

List of variants reported as pathogenic for Xeroderma pigmentosum by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	rs376556895	0.00010
NM_006502.3(POLH):c.490G>T (p.Glu164Ter)	rs767433001	0.00002

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