ClinVar Miner

List of variants in gene XPC reported as likely benign for Xeroderma pigmentosum

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.2066C>T (p.Thr689Met) rs3731152 0.00315
NM_004628.5(XPC):c.2782A>C (p.Lys928Gln) rs3731177 0.00285
NM_004628.5(XPC):c.1497G>A (p.Ala499=) rs150344169 0.00123
NM_004628.5(XPC):c.2250+6G>A rs201446851 0.00111
NM_004628.5(XPC):c.2496T>C (p.Ile832=) rs201597537 0.00083
NM_004628.5(XPC):c.2088G>A (p.Val696=) rs182189497 0.00042
NM_004628.5(XPC):c.779+11C>T rs199838876 0.00033
NM_004628.5(XPC):c.413-4A>G rs367977379 0.00010
NM_004628.5(XPC):c.1509C>T (p.Ser503=) rs760867012 0.00009
NM_004628.5(XPC):c.2238C>T (p.Ala746=) rs375170067 0.00009
NM_004628.5(XPC):c.2730T>C (p.Asp910=) rs372394855 0.00007
NM_004628.5(XPC):c.2067G>A (p.Thr689=) rs765391700 0.00006
NM_004628.5(XPC):c.465A>G (p.Arg155=) rs370322435 0.00002
NM_004628.5(XPC):c.1015T>C (p.Leu339=) rs1479935789 0.00001
NM_004628.5(XPC):c.1149G>A (p.Gly383=) rs761062571 0.00001
NM_004628.5(XPC):c.1647C>T (p.His549=) rs190103795 0.00001
NM_004628.5(XPC):c.507G>T (p.Thr169=) rs1286285107 0.00001
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser) rs200338014

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