ClinVar Miner

List of variants in gene XPC reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
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.621+272C>T rs3731102 0.02071
NM_004628.5(XPC):c.300-190A>G rs3731078 0.02023
NM_004628.5(XPC):c.2421-249C>T rs3731163 0.01845
NM_004628.5(XPC):c.2421-173A>G rs3731164 0.01715
NM_004628.5(XPC):c.621+22G>A rs75305688 0.01686
NM_004628.5(XPC):c.536+328C>T rs3731095 0.01204
NM_004628.5(XPC):c.901-280A>G rs3731122 0.01104
NM_004628.5(XPC):c.2033+57C>T rs3731141 0.01096
NM_004628.5(XPC):c.1362T>C (p.Asp454=) rs3731128 0.01075
NM_004628.5(XPC):c.300-108C>G rs3731079 0.01047
NM_004628.5(XPC):c.2033+183_2033+184del rs3731142 0.01030
NM_004628.5(XPC):c.2116-325C>T rs112302625 0.00940
NM_004628.5(XPC):c.2033+123A>G rs77167750 0.00849
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_004628.5(XPC):c.1841T>C (p.Phe614Ser) rs144766677 0.00716
NM_004628.5(XPC):c.2116-42G>A rs142200580 0.00714
NM_004628.5(XPC):c.103+242C>T rs76281772 0.00693
NM_004628.5(XPC):c.860T>G (p.Phe287Cys) rs35629274 0.00642
NM_004628.5(XPC):c.901-227T>G rs116815481 0.00622
NM_004628.5(XPC):c.2115+227A>C rs143952061 0.00620
NM_004628.5(XPC):c.990+46A>G rs11924449 0.00561
NM_004628.5(XPC):c.1443G>T (p.Lys481Asn) rs182616621 0.00456
NM_004628.5(XPC):c.991-100T>G rs553804127 0.00359
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.621+28C>T rs148673932 0.00309
NM_004628.5(XPC):c.2232A>C (p.Pro744=) rs189619298 0.00221
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp) rs121965090 0.00098
NM_004628.5(XPC):c.2420+42G>A rs115309145 0.00088
NM_004628.5(XPC):c.2404G>A (p.Gly802Ser) rs200148127 0.00031
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_004628.5(XPC):c.574A>G (p.Arg192Gly) rs200485886 0.00004
NM_004628.5(XPC):c.2351G>A (p.Arg784His) rs753463306 0.00001
NM_004628.5(XPC):c.779+1G>T rs975121308 0.00001
NC_000003.12:g.14178765CT[1] rs150233996
NM_004628.5(XPC):c.104-88A>G
NM_004628.5(XPC):c.1872+1G>C rs1559374923
NM_004628.5(XPC):c.2033+289T>C rs3731143
NM_004628.5(XPC):c.2115+136G>A rs3731154
NM_004628.5(XPC):c.2116-153dup rs111520695
NM_004628.5(XPC):c.2116-195C>T
NM_004628.5(XPC):c.2251-12_2251-8delinsAACCG
NM_004628.5(XPC):c.2251-37C>G rs2470353
NM_004628.5(XPC):c.2257C>T (p.Arg753Trp)
NM_004628.5(XPC):c.2515-198C>G rs55928766
NM_004628.5(XPC):c.2605-56C>T rs55876983
NM_004628.5(XPC):c.412+119A>G
NM_004628.5(XPC):c.412+298A>G rs3731082
NM_004628.5(XPC):c.412+34G>A
NM_004628.5(XPC):c.536+236_536+242del rs3731094
NM_004628.5(XPC):c.621+24del rs55822380
NM_004628.5(XPC):c.690dup (p.Ala231fs) rs1553606767
NM_004628.5(XPC):c.900+196G>A rs3731119

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