ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group C by Mendelics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_004628.5(XPC):c.749A>G (p.Asp250Gly) rs201247727 0.00040
NM_004628.5(XPC):c.706A>G (p.Ile236Val) rs750767012 0.00001
NM_004628.5(XPC):c.90GGA[4] (p.Glu34del) rs750450365

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