ClinVar Miner

List of variants reported as benign for Xeroderma pigmentosum, group C by Genome-Nilou Lab

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.1881T>A (p.Ala627=) rs2958057 1.00000
NM_004628.5(XPC):c.2605-40A>G rs2733532 0.65805
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.2604+28C>G rs2733534 0.41913
NM_004628.5(XPC):c.621+44C>G rs3729587 0.34174
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.901-22A>G rs3731125 0.07731
NM_004628.5(XPC):c.1475G>A (p.Arg492His) rs2227999 0.03986
NM_004628.5(XPC):c.622-16C>G rs3731111 0.02487
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.1362T>C (p.Asp454=) rs3731128 0.01075
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.1443G>T (p.Lys481Asn) rs182616621 0.00456
NM_004628.5(XPC):c.780-15C>T rs3731116 0.00344
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.2232A>C (p.Pro744=) rs189619298 0.00221
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.147C>T (p.Ser49=) rs376018905 0.00005
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser) rs200338014
NM_004628.5(XPC):c.1897C>T (p.Pro633Ser) rs749104732
NM_004628.5(XPC):c.2251-37C>G rs2470353

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