ClinVar Miner

List of variants in gene XPC reported as benign

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Gene type:
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Total variants: 67
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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.2514+261T>C rs2257984 0.65266
NM_004628.5(XPC):c.2251-6A>C rs2279017 0.64290
NM_004628.5(XPC):c.2514+68T>C rs2607749 0.45498
NM_004628.5(XPC):c.2604+90G>T rs2733533 0.41919
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.2605-51A>G rs3731175 0.27176
NM_004628.5(XPC):c.2061G>A (p.Arg687=) rs2227998 0.26212
NM_004628.5(XPC):c.412+73G>T rs3731081 0.22333
NM_004628.5(XPC):c.2034-178A>C rs3731149 0.22304
NM_004628.5(XPC):c.1496C>T (p.Ala499Val) rs2228000 0.21224
NM_004628.5(XPC):c.901-70A>C rs3731124 0.18590
NM_004628.5(XPC):c.901-22A>G rs3731125 0.07731
NM_004628.5(XPC):c.299+267T>C rs3731064 0.07721
NM_004628.5(XPC):c.300-208G>T rs2290711 0.07619
NM_004628.5(XPC):c.413-159T>C rs3731093 0.07596
NM_004628.5(XPC):c.621+39C>T rs3729588 0.06467
NM_004628.5(XPC):c.901-126C>G rs3731123 0.04360
NM_004628.5(XPC):c.780-139T>C rs3731115 0.04297
NM_004628.5(XPC):c.991-81C>T rs3731127 0.04082
NM_004628.5(XPC):c.1475G>A (p.Arg492His) rs2227999 0.03986
NM_004628.5(XPC):c.2034-273G>A rs3731148 0.02506
NM_004628.5(XPC):c.622-16C>G rs3731111 0.02487
NM_004628.5(XPC):c.2421-76T>C rs3731166 0.02466
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.2421-249C>T rs3731163 0.01845
NM_004628.5(XPC):c.621+22G>A rs75305688 0.01686
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.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_004628.5(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.872C>G (p.Ser291Cys) rs184879571 0.00304
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.1497G>A (p.Ala499=) rs150344169 0.00123
NM_004628.5(XPC):c.303C>T (p.Asp101=) rs41545713 0.00095
NM_004628.5(XPC):c.2496T>C (p.Ile832=) rs201597537 0.00083
NM_004628.5(XPC):c.1539G>C (p.Met513Ile) rs3731130 0.00064
NM_004628.5(XPC):c.939C>T (p.Thr313=) rs141523491 0.00041
NM_004628.5(XPC):c.2595C>T (p.Tyr865=) rs370126012 0.00019
NM_004628.5(XPC):c.413-4A>G rs367977379 0.00010
NM_004628.5(XPC):c.536+11G>T rs182782193 0.00006
NM_004628.5(XPC):c.147C>T (p.Ser49=) rs376018905 0.00005
NM_004628.5(XPC):c.1616A>G (p.Glu539Gly) rs563236303 0.00004
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser) rs200338014
NM_004628.5(XPC):c.1872+12G>A
NM_004628.5(XPC):c.1897C>T (p.Pro633Ser) rs749104732
NM_004628.5(XPC):c.2033+289T>C rs3731143
NM_004628.5(XPC):c.2034-17C>T
NM_004628.5(XPC):c.2115+17G>T
NM_004628.5(XPC):c.2115+18dup
NM_004628.5(XPC):c.2163G>T (p.Glu721Asp)
NM_004628.5(XPC):c.2251-37C>G rs2470353
NM_004628.5(XPC):c.2420+12del
NM_004628.5(XPC):c.2605-16A>C
NM_004628.5(XPC):c.332A>T (p.His111Leu)
NM_004628.5(XPC):c.537-16dup rs755812525
NM_004628.5(XPC):c.900+196G>A rs3731119

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