ClinVar Miner

List of variants reported as pathogenic for Xeroderma pigmentosum, group C by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004628.5(XPC):c.2251-1G>C	rs754673606	0.00006
NM_004628.5(XPC):c.739C>T (p.Arg247Ter)	rs764321665	0.00001
NM_004628.5(XPC):c.779+1G>A	rs975121308

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