ClinVar Miner

List of variants reported as likely benign for Xeroderma pigmentosum, group C

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.*192T>C rs3731178 0.01085
NM_004628.5(XPC):c.1362T>C (p.Asp454=) rs3731128 0.01075
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_004628.5(XPC):c.1443G>T (p.Lys481Asn) rs182616621 0.00456
NM_004628.5(XPC):c.1497G>A (p.Ala499=) rs150344169 0.00123
NM_004628.4(XPC):c.-58C>T rs573720507 0.00051
NM_004628.5(XPC):c.*270A>G rs564228132 0.00050
NM_004628.5(XPC):c.105T>A (p.Asp35Glu) rs202128104 0.00001
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser) rs200338014
NM_004628.5(XPC):c.1185G>A (p.Lys395=) rs886058051

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