ClinVar Miner

List of variants reported as pathogenic for Xeroderma pigmentosum, group C by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter)	rs757958943	0.00004
NM_004628.5(XPC):c.1643_1644del (p.Val548fs)	rs754532049
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs)	rs1559369237

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