ClinVar Miner

List of variants reported as likely pathogenic for Xeroderma pigmentosum, group C

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ClinVar version:
Total variants: 86
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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.2033+1G>A rs764480429 0.00002
NM_004628.5(XPC):c.1A>G (p.Met1Val) rs763678756 0.00001
NM_004628.5(XPC):c.779+1G>T rs975121308 0.00001
NM_004628.5(XPC):c.103+1G>A rs1423398589
NM_004628.5(XPC):c.103+2T>G rs1553608616
NM_004628.5(XPC):c.104-2A>G rs1696679400
NM_004628.5(XPC):c.1067_1077del (p.Asn356fs)
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.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.1306del (p.Ser436fs) rs1253035928
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.155C>G (p.Ser52Ter)
NM_004628.5(XPC):c.1564A>T (p.Lys522Ter) rs746250060
NM_004628.5(XPC):c.1593G>A (p.Trp531Ter)
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.1769del (p.Met590fs)
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.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.1A>T (p.Met1Leu) rs763678756
NM_004628.5(XPC):c.2010T>A (p.Cys670Ter) rs781023624
NM_004628.5(XPC):c.2034-2A>G
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.2115+1G>C
NM_004628.5(XPC):c.2116-1G>A rs1553604620
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.2153del (p.Arg718fs)
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.2421-2A>G
NM_004628.5(XPC):c.2421_2440del20 (p.Thr808fs)
NM_004628.5(XPC):c.2432_2435dup (p.Val813fs)
NM_004628.5(XPC):c.2515A>T (p.Lys839Ter)
NM_004628.5(XPC):c.2552dup (p.Ala852fs)
NM_004628.5(XPC):c.2605-2A>G
NM_004628.5(XPC):c.299+1G>A rs1553607744
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.470_471del (p.Leu157fs) rs1574972784
NM_004628.5(XPC):c.514C>T (p.Gln172Ter)
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.55C>T (p.Gln19Ter) rs1553608637
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.780-2A>G
NM_004628.5(XPC):c.780-2A>T rs1696314718
NM_004628.5(XPC):c.856A>T (p.Arg286Ter)
NM_004628.5(XPC):c.861dup (p.Ala288fs)
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.990+1G>A
NM_004628.5(XPC):c.991-2A>C
NM_004628.5(XPC):c.991-2A>G rs1553605894
NM_004628.5(XPC):c.992del

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