ClinVar Miner

List of variants reported as pathogenic for Xeroderma pigmentosum by Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004628.5(XPC):c.2251-1G>C	rs754673606	0.00006
NM_004628.5(XPC):c.877C>T (p.Arg293Ter)	rs373519125	0.00005

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