ClinVar Miner

List of variants reported as benign for Xeroderma pigmentosum, group C by Illumina Laboratory Services, Illumina

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Total variants: 25
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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.2251-6A>C rs2279017 0.64290
NM_004628.5(XPC):c.-27G>C rs2607775 0.42677
NM_004628.5(XPC):c.2061G>A (p.Arg687=) rs2227998 0.26212
NM_004628.5(XPC):c.*96C>G rs2229090 0.22357
NM_004628.5(XPC):c.1496C>T (p.Ala499Val) rs2228000 0.21224
NM_004628.5(XPC):c.*618A>G rs2470458 0.16965
NM_004628.5(XPC):c.1475G>A (p.Arg492His) rs2227999 0.03986
NM_004628.5(XPC):c.300G>A (p.Arg100=) rs2228002 0.02396
NM_004628.5(XPC):c.142C>T (p.Leu48Phe) rs2229089 0.02177
NM_004628.5(XPC):c.46C>G (p.Leu16Val) rs1870134 0.01876
NM_004628.5(XPC):c.2028C>T (p.Tyr676=) rs2228004 0.00805
NM_004628.5(XPC):c.1841T>C (p.Phe614Ser) rs144766677 0.00716
NM_004628.5(XPC):c.860T>G (p.Phe287Cys) rs35629274 0.00642
NM_004628.4(XPC):c.-71C>T rs567196401 0.00560
NM_004628.5(XPC):c.1734C>A (p.Val578=) rs3731131 0.00479
NM_004628.5(XPC):c.780-15C>T rs3731116 0.00344
NM_004628.5(XPC):c.2782A>C (p.Lys928Gln) rs3731177 0.00285
NM_004628.5(XPC):c.1780C>T (p.Arg594Cys) rs183238369 0.00126
NM_004628.5(XPC):c.303C>T (p.Asp101=) rs41545713 0.00095
NM_004628.5(XPC):c.1539G>C (p.Met513Ile) rs3731130 0.00064
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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