ClinVar Miner

List of variants in gene XPC reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.749A>G (p.Asp250Gly) rs201247727 0.00040
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter) rs374117852 0.00004
NM_004628.5(XPC):c.2437G>A (p.Val813Ile) rs371576722 0.00003
NM_004628.5(XPC):c.2033+1G>A rs764480429 0.00002
NM_004628.5(XPC):c.2420+2T>C rs778987248 0.00001
NM_004628.5(XPC):c.779+1G>T rs975121308 0.00001
NM_004628.5(XPC):c.991-1G>A rs1000669774 0.00001
NC_000003.11:g.(?_14188780)_(14189511_?)del
NC_000003.11:g.14187530_(14190449_14193834)del
NM_004628.5(XPC):c.104-1G>T rs2125046287
NM_004628.5(XPC):c.104-1del
NM_004628.5(XPC):c.104-2A>G rs1696679400
NM_004628.5(XPC):c.1102C>T (p.Gln368Ter)
NM_004628.5(XPC):c.1143dup (p.Lys382fs) rs1553605871
NM_004628.5(XPC):c.1266del (p.Arg423fs) rs2125025992
NM_004628.5(XPC):c.1267C>T (p.Arg423Trp)
NM_004628.5(XPC):c.1288dup (p.Tyr430fs)
NM_004628.5(XPC):c.1289_1293del (p.Ser429_Tyr430insTer) rs1553605813
NM_004628.5(XPC):c.1293_1294insT (p.Glu432Ter) rs1553605805
NM_004628.5(XPC):c.1328_1329del (p.Gly442_Ser443insTer) rs1553605795
NM_004628.5(XPC):c.1336G>T (p.Glu446Ter)
NM_004628.5(XPC):c.1381G>T (p.Glu461Ter) rs754197041
NM_004628.5(XPC):c.1420C>T (p.Gln474Ter)
NM_004628.5(XPC):c.1421dup (p.Arg475fs) rs1553605761
NM_004628.5(XPC):c.147del (p.Val51fs) rs1553607773
NM_004628.5(XPC):c.1564A>T (p.Lys522Ter) rs746250060
NM_004628.5(XPC):c.1593G>A (p.Trp531Ter)
NM_004628.5(XPC):c.1660C>T (p.Gln554Ter) rs1696002966
NM_004628.5(XPC):c.1686del (p.Thr563fs) rs1553605655
NM_004628.5(XPC):c.1750_1751del (p.Arg584fs) rs752030576
NM_004628.5(XPC):c.1752_1756del (p.Tyr585fs)
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)
NM_004628.5(XPC):c.1798dup (p.Ala600fs)
NM_004628.5(XPC):c.1872+1G>A
NM_004628.5(XPC):c.1872+1G>C rs1559374923
NM_004628.5(XPC):c.1872+2T>C rs2125024504
NM_004628.5(XPC):c.1873-2A>G rs2125022131
NM_004628.5(XPC):c.1933C>G (p.Pro645Ala)
NM_004628.5(XPC):c.1934del (p.Pro645fs) rs1553605497
NM_004628.5(XPC):c.1939_1942del (p.Tyr647fs)
NM_004628.5(XPC):c.1969G>T (p.Glu657Ter)
NM_004628.5(XPC):c.2010T>A (p.Cys670Ter) rs781023624
NM_004628.5(XPC):c.2033+2T>C rs794729655
NM_004628.5(XPC):c.2034-1G>A rs869025275
NM_004628.5(XPC):c.2047_2048del (p.Thr683fs)
NM_004628.5(XPC):c.2050_2051del (p.Leu684fs) rs765641981
NM_004628.5(XPC):c.2101G>T (p.Glu701Ter) rs1553605023
NM_004628.5(XPC):c.2116-1G>A rs1553604620
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.2194dup (p.Leu732fs) rs1309116467
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs) rs1559369237
NM_004628.5(XPC):c.2218G>T (p.Glu740Ter) rs770308917
NM_004628.5(XPC):c.2251-2A>G rs1553604570
NM_004628.5(XPC):c.2301del (p.Met767fs)
NM_004628.5(XPC):c.2317C>T (p.Gln773Ter) rs1281090187
NM_004628.5(XPC):c.2331dup (p.Asn778fs) rs1553604552
NM_004628.5(XPC):c.2336dup (p.His780fs) rs1553604549
NM_004628.5(XPC):c.2420+1G>A
NM_004628.5(XPC):c.2421-1_2440delinsC
NM_004628.5(XPC):c.2421-2A>G
NM_004628.5(XPC):c.2421_2440del20 (p.Thr808fs)
NM_004628.5(XPC):c.2514+2T>C
NM_004628.5(XPC):c.2515-1G>A
NM_004628.5(XPC):c.2515A>T (p.Lys839Ter)
NM_004628.5(XPC):c.2552dup (p.Ala852fs)
NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter) rs370126012
NM_004628.5(XPC):c.299+1G>A rs1553607744
NM_004628.5(XPC):c.300-11_300del rs2125043277
NM_004628.5(XPC):c.300-2A>C
NM_004628.5(XPC):c.368del (p.Asn123fs) rs1553607419
NM_004628.5(XPC):c.385dup (p.Ser129fs)
NM_004628.5(XPC):c.409dup (p.Glu137fs) rs1208223013
NM_004628.5(XPC):c.413-24A>G rs794729657
NM_004628.5(XPC):c.470_471del (p.Leu157fs) rs1574972784
NM_004628.5(XPC):c.515dup (p.Ala173fs) rs1553607144
NM_004628.5(XPC):c.525_526del (p.Glu177fs)
NM_004628.5(XPC):c.537-1G>C rs1326646197
NM_004628.5(XPC):c.618_619del (p.His206fs) rs1553606979
NM_004628.5(XPC):c.621+1G>A
NM_004628.5(XPC):c.622-2A>G rs201940931
NM_004628.5(XPC):c.673_692dup (p.Ile232fs)
NM_004628.5(XPC):c.779+1G>A rs975121308
NM_004628.5(XPC):c.780-1G>A
NM_004628.5(XPC):c.780-2A>C rs1696314718
NM_004628.5(XPC):c.780-2A>T rs1696314718
NM_004628.5(XPC):c.861dup (p.Ala288fs)
NM_004628.5(XPC):c.900+1G>A rs2125035588
NM_004628.5(XPC):c.915dup (p.Leu306fs) rs1553605973
NM_004628.5(XPC):c.958C>T (p.Gln320Ter) rs867461743
NM_004628.5(XPC):c.977C>G (p.Ser326Ter)
NM_004628.5(XPC):c.991-2A>C
NM_004628.5(XPC):c.991-2A>G rs1553605894

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