ClinVar Miner

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

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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.877C>T (p.Arg293Ter) rs373519125 0.00005
NM_000380.4(XPA):c.389G>A (p.Arg130Lys) rs1324310300

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