ClinVar Miner

List of variants in gene combination TMEM43, XPC reported as benign for Xeroderma pigmentosum, group C

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001 0.64910
NM_004628.5(XPC):c.*96C>G rs2229090 0.22357
NM_004628.5(XPC):c.*618A>G rs2470458 0.16965
NM_004628.5(XPC):c.2421-11T>C rs3731167 0.00005
NM_004628.5(XPC):c.*133G>A rs377250919 0.00004
NM_004628.5(XPC):c.*611T>A rs2470352
NM_004628.5(XPC):c.*684G>C rs1126547

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