ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group C by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 103
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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.*192T>C rs3731178 0.01085
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_004628.4(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.872C>G (p.Ser291Cys) rs184879571 0.00304
NM_004628.5(XPC):c.2782A>C (p.Lys928Gln) rs3731177 0.00285
NM_004628.5(XPC):c.*624A>C rs548142411 0.00144
NM_004628.5(XPC):c.1780C>T (p.Arg594Cys) rs183238369 0.00126
NM_004628.5(XPC):c.2250+6G>A rs201446851 0.00111
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp) rs121965090 0.00098
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.*89G>C rs5031057 0.00073
NM_004628.5(XPC):c.1539G>C (p.Met513Ile) rs3731130 0.00064
NM_004628.5(XPC):c.37G>C (p.Gly13Arg) rs201273381 0.00057
NM_004628.5(XPC):c.1531A>C (p.Lys511Gln) rs6413541 0.00052
NM_004628.4(XPC):c.-58C>T rs573720507 0.00051
NM_004628.5(XPC):c.*270A>G rs564228132 0.00050
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.*756T>C rs556973888 0.00015
NM_004628.5(XPC):c.1781G>A (p.Arg594His) rs147900621 0.00014
NM_004628.5(XPC):c.1022C>T (p.Ala341Val) rs192285219 0.00013
NM_004628.5(XPC):c.1984G>A (p.Glu662Lys) rs372048184 0.00011
NM_004628.5(XPC):c.*452G>A rs554938831 0.00010
NM_004628.5(XPC):c.413-4A>G rs367977379 0.00010
NM_004628.5(XPC):c.*792A>G rs776547561 0.00009
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_004628.4(XPC):c.-82C>G rs768047123 0.00008
NM_004628.5(XPC):c.102G>A (p.Glu34=) rs72561774 0.00007
NM_004628.5(XPC):c.1268G>A (p.Arg423Gln) rs376808339 0.00006
NM_004628.5(XPC):c.2137C>T (p.Arg713Cys) rs374783706 0.00006
NM_004628.5(XPC):c.536+11G>T rs182782193 0.00006
NM_004628.5(XPC):c.*648C>T rs1015682387 0.00005
NM_004628.5(XPC):c.17C>G (p.Ala6Gly) rs770358796 0.00005
NM_004628.5(XPC):c.1823G>A (p.Arg608Lys) rs768979551 0.00005
NM_004628.5(XPC):c.2138G>A (p.Arg713His) rs778769039 0.00005
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.*682A>G rs187666722 0.00004
NM_004628.5(XPC):c.-4C>T rs200570610 0.00004
NM_004628.5(XPC):c.1616A>G (p.Glu539Gly) rs563236303 0.00004
NM_004628.5(XPC):c.2251-7G>A rs756300837 0.00004
NM_004628.5(XPC):c.2514+6C>T rs367800362 0.00004
NM_004628.5(XPC):c.574A>G (p.Arg192Gly) rs200485886 0.00004
NM_004628.5(XPC):c.1131C>T (p.Cys377=) rs187340581 0.00002
NM_004628.5(XPC):c.2174G>A (p.Arg725Gln) rs567932695 0.00002
NM_004628.5(XPC):c.2591G>A (p.Arg864His) rs776645102 0.00002
NM_004628.4(XPC):c.-84C>T rs747342888 0.00001
NM_004628.5(XPC):c.1023G>A (p.Ala341=) rs370847346 0.00001
NM_004628.5(XPC):c.105T>A (p.Asp35Glu) rs202128104 0.00001
NM_004628.5(XPC):c.1469G>A (p.Ser490Asn) rs886058050 0.00001
NM_004628.5(XPC):c.1913T>C (p.Ile638Thr) rs752133677 0.00001
NM_004628.5(XPC):c.1A>G (p.Met1Val) rs763678756 0.00001
NM_004628.5(XPC):c.2020G>T (p.Ala674Ser) rs374888544 0.00001
NM_004628.5(XPC):c.2351G>A (p.Arg784His) rs753463306 0.00001
NM_004628.5(XPC):c.2412C>T (p.Ser804=) rs752120059 0.00001
NM_004628.5(XPC):c.2515A>G (p.Lys839Glu) rs765684436 0.00001
NM_004628.5(XPC):c.262A>G (p.Ile88Val) rs200197232 0.00001
NM_004628.5(XPC):c.940C>T (p.Arg314Trp) rs914274804 0.00001
NM_004628.4(XPC):c.-55G>T rs142935792
NM_004628.5(XPC):c.*139G>T rs773332345
NM_004628.5(XPC):c.*483A>C rs886058045
NM_004628.5(XPC):c.*611T>A rs2470352
NM_004628.5(XPC):c.*611T>C rs2470352
NM_004628.5(XPC):c.*684G>C rs1126547
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser) rs200338014
NM_004628.5(XPC):c.1185G>A (p.Lys395=) rs886058051
NM_004628.5(XPC):c.1246C>G (p.Arg416Gly) rs369928352
NM_004628.5(XPC):c.134A>G (p.Lys45Arg) rs779117189
NM_004628.5(XPC):c.1365C>T (p.Pro455=) rs753527196
NM_004628.5(XPC):c.1474C>A (p.Arg492Ser) rs373883060
NM_004628.5(XPC):c.1539G>A (p.Met513Ile) rs3731130
NM_004628.5(XPC):c.1634T>C (p.Val545Ala) rs1696004839
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.1873-10G>T rs886058049
NM_004628.5(XPC):c.1942G>T (p.Ala648Ser) rs1332080043
NM_004628.5(XPC):c.1947G>A (p.Leu649=) rs764572758
NM_004628.5(XPC):c.2194dup (p.Leu732fs) rs1309116467
NM_004628.5(XPC):c.2250+1G>A
NM_004628.5(XPC):c.2418C>A (p.Pro806=) rs199828421
NM_004628.5(XPC):c.2596G>A (p.Gly866Arg) rs751759776
NM_004628.5(XPC):c.392A>C (p.Asn131Thr) rs747522884
NM_004628.5(XPC):c.393T>C (p.Asn131=) rs1696563827
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918
NM_004628.5(XPC):c.779+12C>G rs754591857

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